What can Genomic and Culture Diversity tell us about ... · Maria Teresa Navarro-Romero (PhD...
Transcript of What can Genomic and Culture Diversity tell us about ... · Maria Teresa Navarro-Romero (PhD...
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2ND
International Human Migration Conference
What can Genomic and Culture Diversity tell us about migration?
October 17-21, 2017
Mexico City, Mexico
Conference Book
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ORGANIZING COMMITTEE
The 2nd International Human Migration Conference Chair 2017
PhD. María de Lourdes Muñoz
Professor
Department of Genetics and Molecular Biology
CINVESTAV-IPN, Mexico
The 1st International Human Migration Conference Chair 2010
PhD. Michael H. Crawford
Professor
Biological Anthropology Laboratory
Kansas University, USA
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ORGANIZING COMMITTEE RESEARCHERS
PhD. María de Lourdes Muñoz Professor Department of Genetics and Molecular Biology CINVESTAV-IPN, Mexico
PhD. Michael H. Crawford Professor Biological Anthropology Laboratory Kansas University, USA
PhD. Javiera Cervini-Silva Professor The Metropolitan Autonomous University, Mexico
PhD. Rosa María Bermúdez-Cruz Professor Department of Genetics and Molecular Biology CINVESTAV-IPN, Mexico
PhD. Luis Marat Álvarez-Salas Professor Department of Genetics and Molecular Biology CINVESTAV-IPN, Mexico
PhD. Javier Hernández-Sánchez Professor Department of Genetics and Molecular Biology CINVESTAV-IPN, Mexico
PhD. Jaime García-Mena Professor Department of Genetics and Molecular Biology CINVESTAV-IPN, Mexico
PhD. Patricio Gariglio-Vidal Professor Department of Genetics and Molecular Biology CINVESTAV-IPN, Mexico
PhD. Normand García-Hernández Professor Human Genetics Medical Research Unit CMN S-XXI, Mexico
Anthropologist Adrian Martinez-Meza Physical Anthropology Department INAH, Mexico
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ORGANIZING COMMITTEE PhD. STUDENTS
M. Sc. María Teresa Navarro-Romero Department of Genetics and Molecular Biology CINVESTAV-IPN, Mexico
BIOGRAPHY Maria Teresa Navarro-Romero (PhD student) obtained her Master Degree in Biotechnology
and Bioengineering department at CINVESTAV-IPN after obtaining her degree in
Biotechnology Engineering at the National Polytechnic Institute in Mexico. She developed
new forms to produce DNA vaccines, composed by plasmids. Currently she is in the PhD
program in the Department of Genetics and Molecular Biology at CINVESTAV-IPN working
with Ancient DNA of pre-Columbian Mesoamerican cultures. She did one year of research
stay for her doctoral thesis in the Institute of Clinical Molecular Biology at Christian-Albrechts-
University from Kiel, Germany using bioinformatics tools applied to Next Generation
Sequencing of aDNA.
RESEARCH INTEREST Molecular Biology, Genetics, Population Genetics, Network Analysis, Ancient DNA, Mitochondrial DNA Analysis, NGS, Bioinformatics, Ancient Diseases, Historical Demography, Molecular Anthropology, Biotechnology, Plasmid Construction, DNA Extraction, Gene Regulation, Molecular Cloning and Gene Regulation Expression.
M. Sc. Ashael Alfreo Pérez-Muñoz Department of Genetics and Molecular Biology
CINVESTAV-IPN, Mexico
BIOGRAPHY Ashael Alfredo Pérez-Muñoz (PhD student & Professor of Cathedra) obtained his Bachelor's
degree in Biochemistry Engineer at the Celaya Institute of Technology, then he obtained his
Master's degree in Genetics and Molecular Biology at CINVESTAV-IPN. He is currently
developing the project "Evaluation of state of methylation status of mtDNA in breast cancer
in mexican women" in collaboration with the German Cancer Research Center and National
Medical Center SXXI-IMSS. He is a Professor of Embryology at the School of Medicine of
the National Polytechnic Institute.
RESEARCH INTEREST
Molecular Biology, Genetics, Mitochondrial DNA, Gene Regulation, Cancer Regulation,
NGS, Molecular Embryology, Biochemistry, Bioinformatics, Data Analysis, DNA Extraction,
Epigenetics, Mitoepigenetics and Methylation of DNA.
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M. Sc. Angélica Saldaña-Martínez
Department of Genetics and Molecular Biology CINVESTAV-IPN, Mexico
BIOGRAPHY Angélica Saldaña-Martínez is a PhD. student in Genetics and Molecular Biology department
at CINVESTAV-IPN. She is graduated from UNAM as a Chemistry Pharmaceutic Biology
with an experimental thesis of Mitochondrial Diseases, her Master’s Degree was obtained in
the Genetics and Molecular Biology Department at CINVESTAV-IPN, she also working with
Mitochondrial Diseases. At present, she is looking for mitochondrial DNA variations in
diabetes, MELAS and KSS patients from the National Medical Center SXXI in Mexico City
and other regions of the country.
RESEARCH INTEREST Mitochondrial Genetic, Mitochondrial Genetics Disorders, Population Genetics,
Phylogenetic Relationships, Network Analysis, DNA Sequencing, Gene Regulation and
Gene Regulation Expression.
M. Sc. Eduardo Domínguez-de la Cruz Department of Genetics and Molecular Biology CINVESTAV-IPN, Mexico
BIOGRAPHY
Eduardo Domínguez-de la Cruz (Ph.D. student) is a Biologist of the National Autonomous
University of Mexico (UNAM). He has obtained his Master’s Degree in the Genetics and
Molecular Biology Department at CINVESTAV-IPN, where he studied Nuclear
Polymorphisms Associated with Type 2 Diabetes in collaboration with the National Medical
Center SXXI-IMSS. Currently, he is a Ph.D. candidate in the same department at
CINVESTAV-IPN, he is working the effect of p53 on energy metabolism of cancer cells in
collaboration with the National Institute of Cancerology from Mexico and he is also
developing the project of transgenic dengue mosquitoes for the suppression of its population.
RESEARCH INTEREST
Energy Metabolism of Cancer Cells, Systems Biology, Genetics and Genomics, Population
Genetics, Pharmacogenomics, Proteomics, Molecular Biology of Mitochondria,
Bioinformatics, Biostatistics and Genetics Engineering.
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What can Genomic and Culture Diversity tell us about the Migration?
2nd International Human Migration Conference
Auditorio Rosenblueth
Centro de Investigación y de Estudios
Avanzado del IPN (CINVESTAV)
EVENT VENUE
Mexico City, Mexico
October 17-21, 2017
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PROGRAM
OCTOBER 17, 2017-TUESDAY
HOUR ACTIVITY
08:00-10:00
REGISTRATION
10:00-11:00
OPENING WORDS Dr. Enrique Fernández Fassnacht
(Special Guest) DIRECTOR DEL INSTITUTO POLITÉCNICO NACIONAL
INAGURATION WORDS
Dr. José Mustre de León DIRECTOR DEL CENTRO DE INVESTIGACIÓN DE ESTUDIOS AVANZADOS-IPN
PREHISPANIC CEREMONY
11:00-11:20 COFFEE BREAK
KEY SPEAKER CONFERENCES
11:20-17:00 Moderators: Michael H. Crawford & María de Lourdes Muñoz
11:20-12:00 “Causes and Evolutionary Consequences of Human Migration: Molecular Perspective”
PhD Michael H. Crawford UNIVERSITY OF KANSAS, USA
12:00-12:40 “Pre-Hispanic and Contemporary Maya Migrations”
PhD María de Lourdes Muñoz, et al. CINVESTAV-IPN, MEXICO
12:40-13:00
“Migrations in Inner Asia: deciphering the migratory behaviors based on genetic and ethnological data”
PhD Evelyne Heyer, et al. MUSÉE DE I´HOMEE, FRANCE
13:00-15:00 LUNCH
15:00-15:40
“Reconstructing Human Migrations from Genomic data across Latin America and the Pacific”
PhD Andrés Moreno-Estrada
LANGEBIO-CINVESTAV, MEXICO
15:40-16:20
“Reconstructing human population” PhD Maanasa Raghavan
UNIVERSITY OF CAMBRIGE, UK
16:20-17:00
“Genome-wide data, human dispersal, out-of-Africa, archaic genomes” PhD Mark Stoneking
MAX PLANCK INSTITUTE, GERMANY
17:00-18:00 FINAL CONCLUSIONS
PhDs: Michael H. Crawford, María de Lourdes Muñoz, Evelyne Heyer, Maanasa Raghavan, Andrés Moreno-Estrada and Mark Stoneking.
18:00-21:00
WELCOME COCKTAIL
2nd International Human Migration Conference
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PROGRAM
OCTOBER 18, 2017-WEDNESDAY
HOUR ACTIVITY
KEY SPEAKER CONFERENCES
9:00-17:00 Moderators: Mark Stoneking & Dennis O´Rourke
9:00-9:40 “An Arctic Lens for American Migration: Integrating Genomics, Archaeology and Paleoecology”
PhD Dennis O`Rourke, et al. UNIVERSITY OF DE KANSAS, USA
9:40 -10:20
“Mitochondrial DNA diversity in indigenous populations from Central Mexico and its implications for the peopling of Mesoamerica”
PhD Miguel G. Vilar, et al. NATIONAL GEOGRAPHIC SOCIETY, USA
10:20-11:00
“Anthropological and Medical Implications of Genetic Admixture in the Mexican Mestizo Population”
PhD Ricardo Cerda-Flores AUTONOMOUS UNIVERSITY OF NUEVO LEÓN, MEXICO
11:00-11:20 COFFEE BREAK
11:20 -11:40 “What can diet and epigenome diversity tell us about human adaptation and migration?”
PhD M. J. Mosher WESTERN WASHINGTON UNIVERSITY & UNIVERSITY OF KANSAS, USA
11:40-12:00
“A Multi-Isotopic Approach to the Reconstruction of Prehistoric Mobility and Burial Patterns in the Iranian plateau during Bronze Age”
Farnaz Khatibi Jafari (PhD Student) UNIVERSITY OF TOKYO, JAPAN
12:00-12:20 “The Ch’orti’ Maya Diaspora”
PhD Brent Metz UNIVERSITY OF KANSAS, USA
12:20-12:50
“Y-chromosome Diversity in Aztlan Descendants and Its Implications for the History of Central Mexico”
PhD María del Rocio Gómez-Ortega, et al. CINVESTAV-IPN, MEXICO
13:00-15:00 LUNCH
15:00-15:40 “Genetic Continuity and Discontinuity in Prehistoric Italy”
PhD Guido Barbujani UNIVERSITY OF FERRARA, ITALY
15:40-16:20 “Historical peopling of Siberia: the origin of Samoyedic-speaking populations”
PhD Tatiana Karafet, et al. UNIVERSITY OF ARIZONA, USA
16:20-17:00 FINAL CONCLUSIONS
PhDs: Dennis O`Rourke, Miguel G. Vilar, Ricardo Cerda-Flores, M. J. Mosher, Brent Metz, María del Rocio Gómez-Ortega, Guido Barbujani and Tatiana Karafet.
17:00-18:00 POSTERS SESSION & COFFEE BREAK
I HUMAN GENOMIC HISTORY
“Ancient DNA evidence for the peopling of Puerto Rico”
PhD María A. Nieves-Colón, et al. ARIZONA STATE UNIVERSITY-USA & LANGEBIO-CINVESTAV, MEXICO
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“Genetic Stratification in an Amazonian Population with a History of Immigration”
Randy David (PhD Student) UNIVERSITY OF KANSAS, USA
“Genetic analysis of preceramic populations”
Miguel Moreno-Galeana, et al. CINVESTAV-IPN, MEXICO
II MIGRATION THROUGH THE TIME
“Mexico: The Cradle of Pan-American Natives”
PhD James Yanhe Huang CHEM SERVICE INC., USA
“Study of Maternal Linage and Mitochondrial Genetic Diversity of the Mayan Population of the Palenque Archeological sites in Chiapas and Rey in Quintana Roo”
PhD Mirna Isabel Ochoa-Lugo, et al. INSTITUTO TECNOLOGICO DE TIIJUANA
“Genetic structure of Iraqi population from six cities based on 15 STRs”
PhD Sarah D. Alden, et al. UNIVERSITY OF KANSAS, USA
“Genomic Study of Two Pre-Columbian Mummies from Sierra Tarahumara STRs” Viridiana Villa-Islas (PhD Student), et al.
LABORATORIO INTERNACIONAL DE INVESTIGACIÓN SOBRE EL GENOMA HUMANO-UNAM, MEXICO
“Tracing the origin of Polynesian human genomes across the Pacific”
Edgar Pavel Salazar-Fernández (MSc Student), et al. CINVESTAV-LANGEBIO, MEXICO
III DISEASES AND MIGRATION
“Global spread of the mosquito Aedes aegypti, a study of haplotype networks”
PhD Gerardo Pérez-Ramírez, et al. CINVESTAV-IPN, MEXICO
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PROGRAM
OCTOBER 19, 2017-THURSDAY
HOUR ACTIVITY
KEY SPEAKER CONFERENCES
9:00-17:00 Moderators : Javiera Cervini-Silva & Justin Gest
9:00-9:40
“Cinnabar and the preservation of human remains” PhD Javiera Cervini-Silva, et al.
UAM-CUAJIMALPA, MEXICO
9:40 -10:20
"History of the migration of the Zoque on the mountain region of Tabasco" Archeol. Eladio Terreros-Espinosa
TEMPLO MAYOR MUSEUM, INAH, MEXICO
10:20-10:40
“Impact of Human Migration on the spread of arboviral diseases in the US-Mexico border”
PhD Alvaro Díaz-Badillo STDOI, UNIVERSITY OF TEXAS RIO GRANDE VALLEY SCHOOL OF MEDICINE, USA
10:40-10:50 “Reconstructing admixture and migration dynamics of Post-Columbian Mexico”
Juan Esteban Rodríguez-Rodríguez (MSc Student) LANGEBIO-CINVESTAV, MEXICO
10:50-11:00
“Study of Maternal Lineage and Mitochondrial Genetic Diversity of the Prehispanic Mayan Populations of Archaeological Sites from Mexico”
PhD Mirna Isabel Ochoa-Lugo, et al. INSTITUTO TECNOLOGICO DE TIJUANA, MEXICO
11:00 -11:20 COFFEE BREAK
11:20 -12:00
“Genetic, linguistic and cultural differences in Gabon (Africa). New insights into the early Bantu dispersal”
PhDs Franz Manni & John Nerbonne MUSÉE DE I´HOMEE, FRANCE & UNIVERSITY OF GRONINGEN, NETHERLANDS
12:00-12:20 “Why the first settlers (preceramic) migrated to the Mexican basin?”
Phys. Anthropol. Adrián Martínez-Mesa PHYS. ANTHROPOL. DEPARTMENT, INAH, MEXICO
12:20-12:40 “Puyil Cave”
Archeol. Enrique Alcalá-Castañeda TEMPLO MAYOR MUSEUM, INAH, MEXICO
12:40-13:00
“Genetic origin of pre-Hispanic human remains from Puxcatan, Tacotalpa, Tabasco, Mexico through Mitochondrial DNA sequencing”
María Teresa Navarro-Romero (PhD Student), et al. CINVESTAV-IPN, MEXICO
13:00-15:00 LUNCH
15:00-15:40
“Major impact of massive migration on spread of epidemic Mycobacterium tuberculosis strains”
PhD Igor Mokrousov SAINT PETERSBURG PASTEUR INSTITUTE, RUSSIA
15:40-16:20 “Leprosy in ancient samples and aging”
PhD Ben Krause-Kyora UNIVERSITY OF KIEL, GERMANY
16:20-17:00 FINAL CONCLUSIONS
PhDs: Javiera Cervini-Silva, Franz Manni, Alvaro Díaz-Badillo, Igor Mokrousov and Ben Krause-Kyora; Archeol. Eladio Terreros-Espinosa and Enrique Alcalá-Castañeda.
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17:00-18:00 POSTERS SESSION & COFFEE BREAK
III DISEASES AND MIGRATION
“Aedes aegypti is the mainly responsible for disemination of Yellow Fever, Dengue, Zika, and Chikungunya viruses in America”
Eduardo Domínguez-de la Cruz (PhD Student), et al. CINVESTAV-IPN, MEXICO
“The role of migration on Type 2 Diabetes Mellitus”
Heriberto Santander-Lucio (MSc Student), et al. CINVESTAV-IPN, MEXICO
“Detection and comparison of proteins from Aedes aegypti midgut that interacts with protein E and DIII from DENV2 expressed in E. coli and C6/36 cells”
Karla Zavala-Maldonado (PhD Student), et al. CINVESTAV-IPN, MEXICO
“Expression level of BIRC5, CAV-1, ALDH2 and FN1 genes in breast cancer women related with survival and treatment response”
María Guadalupe Zapata-Moreno (MSc Student), et al. UNIVERSIDAD AUTÓNOMA DE COAHUILA, MEXICO
“Association between Mitochondrial Haplogroups/Haplotypes and Breast Cancer in Mexican Population”
María Gutiérrez-Sánchez (MSc Student), et al. CINVESTAV-IPN, MEXICO
IV CULTURAL CAUSES OF MIGRATION
“A mechanistic model of assortative mating in an admixed population” PhD Amy Goldberg & PhD Noah Rosenberg
UNIVERSITY OF CALIFORNIA BERKELEY, USA
“Endogamy index in the Yakut (Sakha) and the Russian population of the Republic of Sakha (Yakutia) in 1979, 1989 and 2002”
PhD Larissa Tarskaia, et al.
UNIVERSITY OF KANSAS, USA
“Migration and intergenerational effects on linear growth: Boas Revisited”
Chad Gerhold (MSc Student) UNIVERSITY OF KANSAS, USA
“The Genetic Structure of Nahua Populations in Mexico”
Erika Itzel Landa-Chavarría (MSc Student) CINVESTAV-LANGEBIO, MEXICO
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PROGRAM
OCTOBER 20, 2017-FRIDAY
HOUR ACTIVITY
KEY SPEAKER CONFERENCES
9:00-17:00 Moderators: Ravindranath Duggirala & Normand García-Hernández
9:00 -9:40 Diabetes in Mexican migrant families”
PhD Ravindranath Duggirala STDOI, UNIVERSITY OF TEXAS RIO GRANDE VALLEY SCHOOL OF MEDICINE, USA
9:40 -10:20 “Atypical reservoirs of dengue virus: vehicles for virus migration?”
PhD José Álvaro Aguilar-Setién IMSS, MEXICO
10:20-11:00 “Allelic frequency of genes associated with type 2 diabetes”
PhD Adán Valladares-Salgado IMSS, MEXICO
11:00 -11:20 COFFEE BREAK
11:20 -12:00
“Exogenous DNA at the service of evolution: remodeling of the human genome over time, insertional mutagenesis, HERV’s and cancer”
PhD Normand García-Hernández, et al. IMSS, MEXICO
12:00-12:20 “BRCA1/2 distribution in human population worldwide”
Ashael Alfredo Pérez-Muñoz (PhD Student) CINVESTAV-IPN, MEXICO
12:20-12:40
“Genetic ancestry and health disparities in Latin America: The curious case of Type 2 Diabetes in Colombia”
PhD King Jordan GEORGIA INSTITUTE OF TECHNOLOGY, USA
12:40-13:00 “Worldwide mitochondrial DNA diseases and a hypothesis on migration”
Angelica Saldaña-Martínez (PhD Student) CINVESTAV-IPN, MEXICO
13:00-13:20
“Natural selection chose it, migration brought it, and football affects its expression: how sickle cell trait is differentially manifested in a small sample of football players”
PhD Lorena Madrigal, et al. UNIVERSITY OF SOUTH FLORIDA, USA
13:20-15:00 LUNCH
15:00-15:20 “Learning the World, Learning the Whirled: Ethnographic Methods of Urban Mobility”
PhD Kiran Jayaram UNIVERSITY OF SOUTH FLORIDA, USA
15:20-15:40
“Legitimacy and Rights of Movement on an Imperiled Planet: Legacies and Lessons linking Central and North America”
PhD James Loucky WESTERN WAASHINGTON UNIVERSITY, USA
15:40-16:00 “Zone of “Illegality:” Sub-Saharan African Migrantion to Europe”
PhD Majid Hannoum UNIVERSITY OF KANSAS, USA
16:00-16:20
“Yurimaguas and the Lower Huallaga River Valley: A biocultural approach to disruptive patterns of migration & urbanization in Peruvian Amazonia”
PhD Bartholomew Dean* & Randy David (PhD Student) UNIVERSITY OF KANSAS, USA, AND *MUSEO REGIONAL-UNIVERSIDAD NACIONAL
DE SAN MARTÍN, PERU
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16:20-17:00 “Molecular genetics of complex multifactorial disease”
PhD Christopher Jenkinson, et al. STDOI, UNIVERSITY OF TEXAS RIO GRANDE VALLEY SCHOOL OF MEDICINE, USA
17:00-17:40
FINAL CONCLUSIONS PhDs: Ravindranath Duggirala, José Álvaro Aguilar-Setién, Adán Valladares-Salgado, Francisco Montiel-Sosa, Normand García-Hernández, James Loucky, Majid Hannoum, Lorena Madrigal, Kiran Jayaram, Bartholomew Dean & Christopher Jenkinson.
17:40-18:00 CLOSING REMARKS
18:00-20:00 CLOSING COCKTAIL
OCTOBER 21, 2017-SATURDAY
HOUR ACTIVITY
9:00-10:00
Last conclusions: “International Human Migration Conference” Future Actions: Definition of the headquarters of the 3rd International Human Migration Conference
10:00-16:00
Cultural Exchange Event with guided tour • Templo Mayor Museum • National Museum of Anthropology • Pyramids of Teotihuacán Note: To be chosen by guest visiting professors
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CONTACT US ON
www.ihmc.cinvestav.mx
CONTACT US ON
www.ihmc.cinvestav.mx
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Key Speaker
Dr. Michael H. Crawford
UNIVERSITY OF KANSAS, USA
CAUSES AND EVOLUTIONARY CONSEQUENCES OF HUMAN MIGRATION: MOLECULAR PERSPECTIVE Microevolution, Migration, Garifuna, Aleuts, Mennonites
Introduction. Human migration is caused or influenced by a number of historical, ecological and cultural events. The most common are: religious
persecution, push-pull-phenomena, subsistence, economic factors, and environmental catastrophes. This presentation examines the causes of
migration in a number of genetically and culturally diverse populations: Black Caribs of the Caribbean and Central America, Unangan (Aleut) people
of the Aleutian Archipelago, and Mennonite communities of Europe, Russia, Kansas and Nebraska. The diverse evolutionary consequences of
these migrations are examined.
Methods. Field investigations on Black Carib communities of Central America and the Caribbean were conducted from 1975-84 and 2004 to
present. While research on Mennonite populations of Kansas and Nebraska were initiated in 1979 and have continued to the present. From 1999
to 2016, field investigations were conducted on 11 Unangan islands. Initially standard genetic markers of the blood: blood groups, proteins,
immunoglobulins and HLA were utilized to characterize the genetic structure. Uniparental DNA markers (mtDNA and NRY) were added as DNA
technology was developed. Most recently, 750,000 SNPs were analyzed for 120 Aleuts and high through-put whole genomic DNA analyzed for
200 Mennonites. Population structure was analyzed using standard multivariate methodologies and computer programs.
Results. Diverse consequences of migration resulted from unique historical events and ecological conditions:
(1) The small group of Black Caribs forcefully transplanted from St. Vincent Island to the Bay Islands and Honduras, provide remarkable
evidence of evolutionary success due to genetic adaptation and population expansion from fewer than 2,000 persons to more than
100,000 in three generations (Crawford, 1994).
(2) The Aleuts, driven by climatic changes and subsistence strategies expanded from the Alaska Peninsula to Attu island and because of
kin migration experienced a reduction in genetic variation but with considerable micro-differentiation (Crawford et al, 2010).
(3) The Mennonites migrated out of Europe due to religious persecution underwent fission due to doctrinal differences in the Midwestern
United States. These small congregations differentiated genetically from each other in a short time span (Crawford, 2000).
Conclusions. Molecular genetic analyses clearly reveal the evolutionary consequences of migration.
Acknowledgements. National Geographic Consortium, National Science Foundation and National Institute of Aging.
References Crawford, MH (ed.) 1984 Current Developments in Anthropological Genetics. Vol. III: Black Caribs: A Case Study of Biocultural Adaptation. Plenum Press: NY.
Crawford, MH (ed.) 2000 Different Seasons. Biological Aging of Mennonites from the Midwestern US. University of Kansas Press.
Crawford, MH, D West and DH O’Rourke (eds.) 2010 The Aleuts: Origins, Culture and Genetics. Human Biology 82 (5-6): 481-764.
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Key Speaker
Dr. María de Lourdes Muñoz
CINVESTAV-IPN, MEXICO
PRE-HISPANIC AND CONTEMPORARY MAYA MIGRATIONS
María de Lourdes Muñoz, Mirna Isabel Ochoa-Lugo, Gerardo Pérez-Ramírez, Kristine G. Beaty, Mauro Lopez-Armenta5, Javiera Cervini-Silva3,4,
Miguel Moreno-Galeana1, Adrián Martínez Meza6, Eduardo Ramos6, Michael H. Crawford2.
1Department of Genetics and Molecular Biology, Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Ciudad de México, México; 2Laboratory of Biological Anthropology, University of Kansas, Lawrence, KS; 3Universidad Autónoma Metropolitana Unidad Cuajimalpa; 4Earth Sciences Division,
Lawrence Berkeley National Laboratory; 5Laboratorio de Genética del Instituto de Ciencias Forenses (INCIFO) del Tribunal Superior de Justicia del Distrito Federal,
México D. F., México; 6 Department of Physical Anthropology, Instituto Nacional de Antropología e Historia (INAH), México.
Key words: Pre-Hispanic Populations, Ancient DNA, Mitochondrial DNA, Indigenous People, Mesoamerica, America, Migration
Introduction. The Maya civilization developed in Mesoamerica persisted approximately three thousand years and was one of the most advanced
of its time. Mayas had the only known full writing system, as well as highly-developed mathematical and astronomical systems. Moreover, they
developed sophisticated architecture and arts. This civilization was localized in the Southeast part of Mexico, in the Yucatan Peninsula, in Yucatan
and Quintana Roo states, and parts of Tabasco and Chiapas states. In Central America, Mayas lived in Guatemala, Belize, Western Honduras,
and El Salvador. Maya civilization reached its peak of power and influence in the Pre-classic period, from 2000 Before the Current Era (BCE)-250
Current Era (CE). This research investigates the genetic variation of ancient populations of the Pre-Hispanic Mayas from archaeological sites in
the states of Yucatan, Chiapas, Quintana Roo, and Tabasco, and their relationship with the contemporary communities in this region. This research
utilizes mtDNA of bone remains found in excavations of archaeological sites of the region.
Methods. Mitochondrial DNA (mtDNA) sequences were obtained by amplification of total DNA extracted from the powdered bone remains using
specific primers for the hypervariable region I (HVS-I). Sequences of the Pre-Hispanic individuals and contemporary populations were compared
to assess interactions and gene flow between populations in the different archaeological sites and with contemporary Mesoamerican Maya and
populations from Asia, Beringia, and South America.
Results revealed 1) Interactions and gene flow between Maya populations in the different archaeological sites; 2) Maya and Ciboneys sharing
haplotype H10 belonged to haplogroup C1 and haplotype H4 of haplogroup D. This indicates a shared genetic ancestry, which further suggests
regional interaction between populations in the Circum-Caribbean region than previously found; 3) haplotype sharing between the Pre-Hispanic
Maya and the indigenous populations from Asia, the Aleutian islands, and North, Central and South America provides evidence for gene flow from
the ancestral Amerindian population of the Pre-Hispanic Maya to Central and South America.
Conclusions. Gene flow occurred within the Maya area, with a directional flow to South America in the Preclassic and Classic eras of the
Mesoamerican chronology, and our analysis support historical documentation which showed that the ancestors of Maya civilization entered the
Yucatan Peninsula after the first movement of people from Northern Asia into the Americas, with later migration of the Maya south to Central
America and the Caribbean towards the northern region of South America are supported.
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Acknowledgements. The project was supported by a grant from CONACYT-PNPC-2013-2014, CONACYT (Sabbatical year), and the Office of
the President of UAM.
References Ochoa-Lugo MI, Muñoz ML, Pérez-Ramírez G, Beaty KG, López-Armenta M, Cervini-Silva J, Moreno-Galeana M, Meza AM, Ramos E, Crawford MH, Romano-Pacheco A. Genetic
Affiliation of Pre-Hispanic and Contemporary Mayas Through Maternal Linage. Hum Biol. 88(2):136-167, 2016.
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Key Speaker
Dr. Andrés Moreno-Estrada
LANGEBIO-CINVESTAV, MEXICO
RECONSTRUCTING HUMAN MIGRATIONS FROM GENOMIC DATA ACROSS LATIN AMERICA AND THE PACIFIC
Head of Genomics Core Facility
LANGEBIO – CINVESTAV, Mexico
http://langebio.cinvestav.mx/labsergen/
www.morenolab.org
Genetic data is transforming our understanding of the natural world and the diversity of our own species. Latin America is among the regions that
concentrate most of the biodiversity of the planet, including ethnic, linguistic and cultural diversity of Latin American human populations. However,
despite the globalization of biotechnologies to analyze the human genome, indigenous populations from the Americas remain underrepresented in
large-scale genomic studies.
In this talk, I will discuss recent efforts to characterize the genetic profile of Native Americans throughout the continent and focus on regional
approaches aimed at resolving finer scale population structure patterns and human migrations throughout Mexico, the Caribbean, South America,
and the Pacific.
This topic poses challenges and opportunities to adequately study human diversity not only for the benefit of researchers and science, but also for
the benefit of the local communities, which are bearers of a unique evolutionary history that has been recorded in their DNA. This rapidly evolving
field also raises questions about the best practices when applying genomic approaches to promote a sustainable use of Latin American biodiversity
in a modern and globalized world.
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Key Speaker
Dr. Maanasa Raghavan
UNIVERSITY OF CAMBRIGE, UK
RECONSTRUCTING HUMAN POPULATION
Technological advances in sequencing have propelled ancient DNA research into the paleogenomics era, accompanied by a tremendous increase
in the amount of generated data. These genome-wide datasets are being used to reconstruct past population structures and understand how
processes such as ancient migrations, admixture and selection have shaped present-day gene pools. My talk will focus on how ancient and modern
genomic datasets are being used in tandem with archaeology and anthropology to advance our understanding of modern human dispersals.
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Key Speaker
Dr. Mark Stoneking
MAX PLANCK INSTITUTE, GERMANY
GENOME-WIDE DATA, HUMAN DISPERSAL, OUT-OF-AFRICA, ARCHAIC GENOMES
Beginning 30 years ago with seminal studies of mitochondrial DNA variation, genetic and now genomic data firmly establish that Africa is the home
of modern humans, and that all non-African populations are derived from Africa. However, the number, timing, and route(s) of dispersal(s) of
modern humans out of Africa, as well as potential back-migrations to Africa, remain contentious issues. In my presentation I will describe the latest
findings from genomic analyses of human populations, including evidence from archaic human genome sequences and other insights from ancient
DNA, that bear on these issues.
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Key Speaker
Dr. Dennis O`Rourke
UNIVERSITY OF KANSAS, USA
AN ARCTIC LENS FOR AMERICAN MIGRATION: INTEGRATING GENOMICS,
ARCHAEOLOGY AND PALEOECOLOGY Authors: D.H. O’Rourke, J. Tackney, L. Norman, and S. Ragsdale
Key words: ancient DNA, prehistoric arctic, Thule, Beringia
Introduction. The original peopling of the Western Hemisphere consisted of both a period of isolation for the development of a recognizable Native
American genome and a dispersal from an area of extreme Northwest North America or Northeast Siberia. Genetic and paleoecological data
strongly suggest that Beringia was the point of origin for early American dispersals, although the archaeological record of a Beringian population
during the Last Glacial Maximum (LGM) has, until recently, been lacking.
Methods. We use molecular genetic methods to document prehistoric diversity in both human and archaeofaunal material in coastal and interior
Alaskan archaeological sites. The molecular data are merged with zooarchaeological analyses and new data on the paleoecology and archaeology
of Beringia to infer multiple dispersals across northern latitudes in the Americas.
Results. Genetic analyses indicate that both Paleo- and Neo-Inuit derive from the same source population as the much earlier dispersal of Native
American populations throughout the hemisphere. Moreover, mtDNA genomic analyses of the earliest human remains in the North American arctic
are suggestive that the original Beringian population was characterized by greater diversity than is present in modern arctic populations, or in
Paleo- or Neo-Inuit groups.
Conclusions. Coupled with new archaeological evidence of people in both Northwest and Northeast Beringia prior to 25kya, the molecular data
support the hypothesis of a substantial population isolated in the south central portion of the Bering land bridge during the LGM. This population
was genetically diverse, perhaps subdivided, and served as the source for both the early dispersal of Native American populations throughout the
hemisphere between ~17-14kya, and the Paleo- and Neo-Inuit migrations at ~5kya and 800ya, respectively.
Acknowledgements. This work was supported by NSF grants PLR-1523059, OPP-1137078, and OPP-0732846 to DHO’R. We gratefully
acknowledge the support, encouragement, and permission for the aDNA analyses from the Iñupiat communities of Barrow, Kiana, Shishmaref,
Deering and Nikolski, Alaska.
References Hoffecker, J.F., S.A. Elias, D.H. O’Rourke, G.R. Scott and N.H. Bigelow (2016) Beringia and the Global Dispersal of Modern Humans. Evol. Anthrop. 25:64-78. DOI:
10.1002/evan.21478.
Tackney, J., B.A. Potter, J. Raff, M. Powers, S. Watkins, D. Warner, J.D. Reuther, J.D. Irish, and D.H.O’Rourke (2015) Two Contemporaneous Mitogenomes from Terminal Pleistocene
Burials in Eastern Beringia. Proc.Natl.Acad.Sci.,USA, www.pnas.org/cgi/doi/10.1073/pnas.1511903112
Tackney, J., J.B. Coltrain, J. Raff and D.H. O’Rourke (2016) Molecular Windows on Arctic Prehistory. In: Handbook of Arctic Archaeology. O. Mason and M. Friesen, eds. Oxford
University Press: London.
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Key Speaker
Dr. Miguel G. Vilar
UNIVERSITY OF PENSYLVANIA, USA
NATIONAL GEOGRAPHIC SOCIETY, USA
MITOCHONDRIAL DNA DIVERSITY IN INDIGENOUS POPULATIONS FROM CENTRAL MEXICO AND ITS
IMPLICATIONS FOR THE PEOPLING OF MESOAMERICA
MIGUEL VILAR1,2, ROCIO GOMEZ3, DANIEL BROOKS1, MARCO MERAZ4, HALEIGH ZILLGES1, AKIVA SANDERS1, AMANDA OWINGS1,
THEODORE SCHURR1, THE GENOGRAPHIC CONSORTIUM 1Department of Anthropology, University of Pennsylvania, Philadelphia, PA, USA; 2National Geographic Society, Washington, DC, USA; 3Department of Toxicology,
CINVESTAV, Mexico City; 4Department of Molecular Biomedicine, CINVESTAV, Mexico City, Mexico
Key words: mtDNA, Central Valley of Mexico, Mesoamerica
Introduction: During the 13th and 14th centuries CE, the Aztecs (Mexica) relocated to and expanded in the Valley of Mexico (VM). Through
intermarriage with neighboring peoples to establish political and military alliances, the Aztecs became a dominant power in Mesoamerica and, in
the process, created an ethnically and linguistically diverse population. At the time of contact with Spanish explorers in the 16th century, the VM
was the most densely populated region of Mesoamerica. Today, the region supports more than half a million indigenous people, including the
linguistically distinct Otomi and Nahua, its two largest native groups.
Methods: To assess the genetic history of the Valley of Mexico, we analyzed mitochondrial DNA (mtDNA diversity) in Otomi and Chichimeca (Oto-
Manguean), Nahua (Uto-Aztecan), and Tepehua (Totonocan) populations. In total, we analyzed genetic variation in 550 individuals from twenty-
three communities in the states of Guanajuato, Hidalgo, Morelos and Queretaro. MtDNA diversity was characterized through control region
sequencing of more than 800 DNA base pairs (bp), as well as through coding-region SNP genotyping. In addition, more complete coding region
diversity was assessed in 25 samples using the GenoChip microarray.
Results: Genetic analysis of the Otomi, Chichimeca, Nahua and Tepehua samples revealed a high frequency (>98%) and great diversity of the
four major Native American haplogroups (A2, B2, C1 and D1), along with the presence of D4h3 among the Otomi. The GenoChip genertated high
resolution SNP genotypes for the selected samples, and revealed new A2 mitogenomes in the study populations. In addition, control region
sequence data were used to estimate genetic differentiation in and gene flow amongst these ethnic groups, and assess genetic diversity within the
different language families represented by them.
Conclusions: Our findings show high haplotypic diversity as well as a large number of founding lineages from each of the major Amerindian
mtDNA haplogroups. This pattern suggests that VM may have served as a hub for population growth, as well as a launching point for subsequent
migration, both to the north and south, for millennia.
Acknowledgments: This project was funded by CONACYT (Project 178239; RG), the National Geographic Society (TGS), and the University of
Pennsylvania (TGS).
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Key Speaker
Dr. Ricardo M. Cerda-Flores
AUTONOMOUS UNIVERSITY OF NUEVO LEÓN, MEXICO
ANTHROPOLOGICAL AND MEDICAL IMPLICATIONS OF GENETIC ADMIXTURE IN
THE MEXICAN MESTIZO POPULATION
Key words: Mexicans, Genetic structure, Genetic Homogeneity, Genetic Admixture, Common Complex diseases
Introduction. Common complex diseases like cardiovascular disorders, cancer, asthma, diabetes, high blood pressure, schizophrenia, cleft lip
and palate, etc. are the main focus of current genomic and epidemiological research. For most of these illnesses, the ethnic background is
suspected to play an important ethiopathogenic role. Genomewide association studies (GWAS) have been conducted to find genetic sequences
or genes associated to several of these multifactorial disorders, but most of them have found a small effect size and low heritability to be valuable
for genetic probability testing. It is clear than in a near future; better planning of translational-focused genomics research and better bioinformatic
approaches will improve our knowledge on gene-gene and gene-environment interactions, and genome tests will find their value to predict clinical
outcomes. Most of these genomes analyzes have been conducted in subjects from particular ethnic groups, mainly Caucasians, Africans, and East
Asians for whom specific and defined panel of polymorphic markers have been developed after the conclusion of the HapMap project, but
conducting these studies in populations with ethnic admixture represent a challenge, as well an opportunity to understand the genetic contributions
to mixed racial phenotypes. Because of their recent history, the admixed population of Latin America constitutes an interesting case-study for
clinical genomics research. Initial works on the genetic structure of the Mexican population, based on blood groups, polymorphic proteins,
hemoglobin variants, HLA and DNA markers, where crucial to define the inter-racial variability, mainly among the Caucasian, Native American, and
African components from diverse Mexican communities; but along the time, the issue of the ethnic admixture in the Mestizo started to generate
interest among the scholars. An intriguing question for population geneticists concerns about the homogeneity of the Mexican population, or more
precisely, the Mestizo Mexican population. The appropriate answer to this question is fundamental for the design of genome-based population
studies, GWAS for complex disease, and pharmacogenomics, among others, because there is always the risk of structure subestimation.
Methods. To develop the topic of genetic homogeneity in the Mexican population, this study will focus on reports of open population genetic
studies, preferable on those carried out with anonymous genetic markers, to avoid confounding factors associated to possible genetic markers
associated with prevalent complex diseases or particular premorbid life styles. I also discarded studies performed with non-randomly selected
subjects, as university students, groups with defined income, religious communities, etc. I also will follow a historic perspective of the described
contributions in order to correlate results with the advancements in the methodologies for genetic marker screening applied to population studies.
Results.
Figure 1. Contributions from parental populations to four Mestizo populations using blood groups, and polymorphic erythrocyte enzymes and plasma proteins as
genetic markers.
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Figure 2. Contributions from parental populations to three Mestizo populations using 13 STR markers.
Figure 3. Contributions from parental populations to three Mestizo populations using 54 admixture informative markers.
Conclusions. Although no perfect, the word “Mestizo” describes the current predominant population more appropriately than “Hispanic”. The
genetic pool of the current Mestizo population of Mexico is mainly made of parental contributions from Native Americans, Spaniards, and in a lesser
extent, from Africans. There is a North-South gradient in the European contribution, and inversely, a South-North gradient of Native American
contribution, but admixture homogeneity is observed in most Mestizo subpopulations. Although there is not a defined panel of markers for Mexican
Mestizo studies yet, recent progresses in the methodologies for Admixture Mapping, a powerful technology to discover genes associated to complex
traits and diseases, will allow for ascertaining genes causing some of the most prevalent chronic diseases, like cardiovascular disorders, diabetes,
and cancer. In this sense, our Mestizo population has an interesting advantage over their parental ethnic groups.
Acknowledgements. To my mentors: Raul Garza-Chapa, William Jackson Schull, Ranajit Chakraborty, and Sara Ann Barton.
References Ricardo M. Cerda-Flores, Augusto Rojas-Martinez. Part II: Genomics in medicine and health-regional. Chapter 100. Anthropological and medical implications of genetic admixture in
the Mexican Mestizo population. Book: Genomics and Health in the Developing World. Edited by Dhavendra Kumar. Oxford University Press. New York, USA. 1192-1198. ISBN13:
9780195374759
European
Native American
African
40%
51%
9%
León43%
51%
6%
Mérida
30%
68%
2%
Oaxaca City
38%
55%
7%
Saltillo
60%
37%
3%
Nuevo León
56%
43%
1%
Jalisco
50%49%
1%
Mexico City
Spanish
Native American
African
European
Native American
African
38%
56%
6%
Nuevo León
30%
65%
5%
Mexico City
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Key Speaker
Dr. Guido Barbujani
UNIVERSITY OF FERRARA, ITALY
GENETIC CONTINUITY AND DISCONTINUITY IN PREHISTORIC ITALY
Key words: Approximate Bayesian Computations, mitochondrial DNA, Mesolithic, Sardinia, Etruscans
Introduction. A large number of biological samples, ranging from the Middle Paleolithic to the Middle Age, is available in Italy. The genealogical
ties among past and present individuals and populations are all but obvious, and certainly cannot be inferred from the archaeological record. Here
I focus on two case studies, as examples of both genetic continuity and discontinuity across time.
Methods. Mitochondrial sequences (complete or partial) from two Mesolithic Sardinian samples, and from seven Etruscan populations (7th-2nd
centuries BC), were compared with suitable databases of modern and ancient data. By methods of Approximate Bayesian Computation (ABC) we
identified the demographic models most plausibly representing the relationships among samples, and estimated their evolutionary parameters
(mutation rates, effective population sizes, patterns and rates of gene flow). For that purpose, we generated by serial coalescent simulation millions
of mitochondrial sequences assuming different demographic scenarios; summary statistics calculated from simulated and observed data were
compared by ABC. Models of isolation with migration were also used to infer population divergence dates.
Results. The complete Mesolithic Sardinian sequences find no match in either modern or Neolithic samples. Rather, they appear evolutionarily
related with European sequences dating back to much earlier time periods, suggesting evolutionary ties with Paleolithic Europe, long-term isolation,
and a limited, if any, contribution to the contemporary gene pool (Modi et al. 2017). Conversely, the Etruscan samples show evidence of genetic
continuity with two, but not all, modern populations settled in the same Tuscan territory. They also show similarities with ancient samples from the
Near East, but the estimated date of separation from such Near Eastern groups is remote (in the Neolithic period), not consistent with the hypothesis
that the Etruscans immigrated from the East around the 8th century BC (Tassi et al. 2013).
Conclusions. If properly analyzed, DNA data allow testing of hypotheses about ancient population relationships and movements. Italian prehistory
shows examples of both genetic continuity (between some Tuscan communities and the Etruscans; between a Sardinian community and Bronze-
Age Sardinians: Ghirotto et al. 2010) and discontinuity (between Mesolithic Sardinians and the communities dwelling in the island in Neolithic,
Bronze Age and modern times). The genealogical relationships between populations occupying the same territory at different times are never
obvious, but can now be inferred empirically with good statistical confidence from genomic data.
References Ghirotto S, et al. (2010) Inferring genealogical processes from patterns of Bronze–age and modern DNA variation in Sardinia. Mol Biol Evol 27:775–786
Modi A, et al. (2017) Complete mitochondrial sequences from Mesolithic Sardinians. Sci Rep 7:000
Tassi F, et al. (2013) Genetic evidence does not support an Etruscan origin in Anatolia. Am J Phys Anthropol 152:11–18
.
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Key Speaker
Dr. Tatiana M. Karafet
UNIVERSITY OF ARIZONA, USA
HISTORICAL PEOPLING OF SIBERIA: THE ORIGIN OF SAMOYEDIC-SPEAKING POPULATIONS
T. M. Karafet1, L. P. Osipova2,3, and M. F. Hammer1
1 University of Arizona, Tucson, USA; 2 Institute of Cytology and Genetics, Novosibirsk, Russia;
3 Novosibirsk State University, Novosibirsk, Russia
Key words: Siberia, Samoyedic-speaking populations, genetic structure
Introduction. The peoples of northwest Siberia speak languages belonging to the Finno-Ugric and Samoyedic branches of the Uralic linguistic
family. Samoyedic people lead nomadic or semi-nomadic life in the Taymyr Peninsula and in the tundra or forest zone between the Ural Mountains
and the Yenisey River. The Samoyedic languages fall into two main branches. The Northern Samoyedic branch includes languages of the Tundra
and Forest Nentsi, Entsi, and Nganasans. The only Southern Samoyedic language with a considerable number of speakers is Selkup. Most Russian
ethnographers and anthropologists believe that all contemporary Samoyedic-speaking peoples are descendants of Paleoasiatic (autochthonous)
populations, which were assimilated by ancient Samoyeds who came from southern Siberia. Nevertheless, several questions remain open, such
as “who were the ancestral autochthonous tribes” and “when did they settled these geographic areas.” A consensus has also not been achieved
on the original homeland of Samoyeds. Our study examines autosomal genome-wide SNPs and Y-chromosomal variation to reconstruct the
historical events that led to the peopling of Northwest Siberia.
Methods. DNA samples were genotyped for 567,096 single nucleotide polymorphisms (SNPs) on Affymetrix platform using standard protocols.
Analyses of linkage disequilibrium, IBD (identically by descent) and the distribution of runs of homozygosity were performed on full data set of
autosomal SNPs. For several analyses we used 281,093 SNPs from the intersection of our data with publicly available ancient Siberian samples.
We applied Principal Components, ADMIXTURE, and TreeMix program analyses on the merged autosomal data set, and FST, f3 and D statistics
were calculated.
Results. Four Samoyedic-speaking populations were analyzed in this study: the Nganasans, Tundra Nentsi, Forest Nentsi, and Northern Selkups.
We also included samples from an additional 23 populations from Siberia, Europe, Central Asia, East Asia, South Asia, and Near East. Our joint
analyses based on autosomal and Y chromosome data show that Samoyedic-speaking populations do not cluster genetically strictly according to
their linguistic affiliation. Only Forest and Tundra Nentsi demonstrate genetic similarity. Selkups are genetically close to Kets, while Nganasans are
drawn toward Evenks and Yukagirs. Interestingly, nearly all Siberian populations exhibit a signal of admixture with Nganasans in f3 and IBD
analyses. When Siberian populations were modeled as a mixture of ancient Siberian cultures and present-day populations, the highly significant
negative f3 statistics were observed for a combination of ancient Mal’ta, Afanasievo, and Andronovo as the first source, and Nganasans or Evenks
as the second mixing source population.
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Conclusions. The results of this study are consistent with the hypothesis that the Paleoasiatic ancestors were different for Nentsi (Forest and
Tundra), Nganasans, and Selkups. Taking into account genetic variation and archaeological evidence we put forward a colonization model that
encompasses early Paleolithic settlement processes, as well as events in historic times. We demonstrate that migration, distinctive marriage
structure, and possibly selection shaped genetic differentiation among populations in Siberia.
Acknowledgements. This work was supported by National Science Foundation grants to T.M.K. and M.F.H. (PLR-1203874), and by the State
Research Project (No 0324-2016-0002) to L.P.O.
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Key Speaker
Dr. Javiera Cervini-Silva
UAM-CUAJIMALPA, MEXICO
A CLOSER LOOK AT SURFACES OF PRESERVED SPECIMENS
Javiera Cervini-Silva1,2,*, María de Lourdes Muñoz3,*, Eduardo Palacios4, José Concepción Jimenez-Lopez5, Mirna Ochoa-Lugo3, Gerardo Pérez-
Ramirez3, Eduardo Ramos-Cruz6, and Arturo Romano-Pacheco7,8
1Departamento de Procesos y Tecnología, Universidad Autónoma Metropolitana Unidad Cuajimalpa, Mexico City, 2Earth Sciences Division, Lawrence Berkeley
National Laboratory, 3Department of Genetics and Molecular Biology, Centro de Investigación y de Estudios Avanzados, Instituto Politécnico Nacional
(CINVESTAV-IPN), Mexico City, 4Departmento de Microscopía Electrónica, Instituto Mexicano del Petróleo, Mexico City, 5Departamento de Antropología Física,
Museo Nacional de Antropología, Mexico City, 6Instituto Nacional de Antropología e Historia (INAH) 7Departamento de Antropología Física, INAH, Mexico City,
and 8Universidad del Claustro de Sor Juana, Ciudad de México
Key words: High Resolution Scanning and Tranmission Microscopy; Energy-Dispersive X-Ray Spectroscopy
High-resolution surface characterization techniques are powerful tools for studying the preservation of ancient human remains and mummies, as
they allow for a detailed information on characteristic physical, chemical and biological processes which, meanwhile, enable for reconstructing
environmental history and cultural practices. In this talk we will discuss collaborative work on the preservation of mercury-enriched archaeological
human remains (as ancient as 3,100 B.C) collected from the Maya site of Palenque, a UNESCO World Heritage Site, addressing how the
incorporation of mercury in specimen, and depositional conditions and aging may allow for preservation (Cervini-Silva et al., 2013; Emslie et al.,
2015) and recovery of genetic material (Ochoa et al., 2016). Also, in the latter section of the talk, we will address ongoing work on the
characterization of Olmec ancient remains collected in El Cerro Manatí, Veracruz, showing unprecedented biosignatures and nanobiomineralization
mechanisms.
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Key Speaker
Archeol. Eladio Terreros-Espinosa
TEMPLO MAYOR MUSEUM-INAH, MEXICO
HISTORY OF THE MIGRATION OF THE ZOQUES OF THE MOUNTAIN REGION OF TABASCO
Key words: the Zoque, caves, archaeology, pottery, merchandise, communication routes
Introduction. The mountain region of Tabasco, was a transcendental zone in the exchange of products and cultural ideas, from the pre-Hispanic
time and during the colony. Also the commodification of the various regional products followed the intricate network of trade routes that articulated
trade with the coastal plain and Chiapas. Therefore, the role played by the settlements of the Tabasqueña sierra, within the commercial chain that
existed between pre-Hispanic times and the first half of the last century, was undoubtedly reflected among these territories, and surely this activity
was an important part of the economy Of the zoques settlements settled in the Tabasqueña mountain range.
Based on the results of the analysis of pre-Hispanic pottery recovered in that region, a chronology can be proposed from the Early Preclassic to
the Protoclassic, continuing in the Late-Terminal Classic until the Late Postclassic.
Methods. The historical sources, Archaeological surveying and excavations, Characterization of ceramics
Results. According to the constructive characteristics of the sites of Rancho Santo Domingo Madrigal (Fourth Section), Rancho Don Ticho, Ejido
Lázaro Cárdenas (El Hular), Ejido Mexiquito (Oxolotán, prehispanic?) And Rancho Don Nicolás Jiménez (Teapa, Antiguo?), Indicate that they were
headquarters of economic and political integrated societies led by caciques, which is inferred through differences in architecture, building
orientation, the presence of tombs and ball games, as well as foreign (ceramics fragments of leaded pottery and sherds with remnants of
chapopote), green stone, travertine (tecali) and obsidian (identified deposits: El Chayal, Guatemala and Sierra de Pachuca, Hidalgo
Conclusions. Given its location I suppose that it is a key area, both for the control of the communication networks, as well as the commercial and
cultural exchange between the zoques of the Tabasqueña and Chiapas mountains, as well as with the Chontales of the Maya Lowlands And the
Olmecs of the Gulf Coast.
References 1.- “El pasado arqueológico zoque. Prospección arqueológica y levantamiento topográfico”, en Tabasco serrano: miradas plurales. Geografía, arqueología, historia, lingüística, y
turismo, pp. 53-128, Mario Humberto Ruz (editor), México, Universidad Nacional Autónoma de México, Gobierno del Estado de Tabasco, 2014.
2.- “Fechamiento de cerámicas prehispánicas de los municipios de Tacotalpa y Teapa, Tabasco” Tabasco: Una visión antropológica e histórica. Cap. IX. pp. 377-402, Miguel Ángel
Rubio Jiménez, Rebeca Perales Vela y Benjamín Pérez González (coordinadores), México, Gobierno del Estado de Tabasco, Instituto Estatal de Cultura de Tabasco, Universidad
Nacional Autónoma de México, Programa Universitario de Estudios de la Diversidad Cultural y la Interculturalidad, 2014.
3.- “El bordón y el abanico: en pos de su imagen y su palabra en el México Antiguo” en Etnias y lenguajes de poder, pp. 31-65, Ana Bella Pérez Castro, Patricia Martel Díaz Cortés y
Elizabeth Albine Mager Hois (editoras), México, Universidad Nacional Autónoma de México, Instituto de Investigaciones Antropológicas, 2016. (En coautoría)
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Key Speaker
Dr. Álvaro Díaz-Badillo
STDOI, UNIVERSITY OF TEXAS RIO GRANDE VALLEY SCHOOL OF MEDICINE, USA
IMPACT OF HUMAN MIGRATION ON THE SPREAD OF ARBOVIRAL DISEASES
IN THE US-MEXICO BORDER
Emerging infectious diseases (IDs) are defined as conditions that have looked in recent times or that have recently improved in their frequency,
geographical distribution or both. Commercial globalization, population movements and environmental changes are the primary factors favoring
the international spread of microorganisms. Transport and communication development also constitutes a remarkable element in the worldwide
dispersion of microorganisms. Today, Arboviral Diseases (ADs), viruses that are transmitted by arthropod vectors, still account for a significant
percentage of death and disability worldwide and in certain regions remain the most important cause of ill health. The mass movement of enormous
numbers of people creates new opportunities for the spread and establishment of traditional or novel ADs.
Historically, ADs such as Dengue (DEN), Chikungunya (CHIK), Zika (ZIK) and West Nile (WN), have been the major contributor to human morbidity
and mortality until relatively recent times, when non-communicable diseases began to rival, and sometimes exceed infections. The number of
mosquito-transmitted infectious epidemics in the U.S. and Mexico is expected to increase as the mosquito populations carrying arboviruses travel
northward due to climate change and general migration of vectors and infected individuals.
A local surveillance arrangement to detect emergent and re-emergent infections, a quick awareness of healthcare organizations and laboratories,
vector control, and the facility of health-protection education programs to inform the population of how to avoid infections are needed to stop the
spread of ADs. Reducing administrative, infrastructure, and political barriers to cross-border public health collaboration will enhance the
effectiveness of disease prevention projects. Then, human behavior plays a significant role in the spread of IDs, and understanding the influence
of migration on the spread of ADs can be critical to improving control efforts. Although the increasing risks of mosquito-transmitted epidemics in
the United States and Mexico, policymakers in both countries have made little effort to prevent future outbreaks.
In our research team, the major focus is related to arboviral infection diseases (DEN, CHIK, ZIK, and WN) and their transmission vectors,
considering information on socioeconomic and environmental factors likely driving transmission of arboviruses. Our study in the underserved and
understudied US-Mexico border population is highly significant as population differences in immune responses are genetically controlled as
numerous genes may exhibit population differences in transcriptional response to infection. Our integrative analysis could potentially identify novel
ethnic-specific biomarkers of the arboviral infections that may aid in disease prognostication and pinpoint novel therapeutic targets and move us
towards precision medicine. The innovative features of this study include the use of an exceptional bi-national border population and the state of
the art molecular and bioinformatic techniques for understanding the pathogenesis of arboviral infections.
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Key Speaker
Dr. Franz Manni
MUSÉE DE L’HOMME, FRANCE
GENETIC, LINGUISTIC AND CULTURAL DIFFERENCES IN GABON (AFRICA).
NEW INSIGHTS INTO THE EARLY BANTU DISPERSAL
Franz Manni (Musée de l’Homme, Paris) and John Nerbonne (University of Groningen)
Key words: Gabon, Bantu-speaking populations, computational linguistics, Y-chromosome, MtDNA, autosomal genom wide markers, music,
radiocarbon dates
Introduction. In this work we have compared the linguistic and genetic diversity of Gabon (Africa) in order to contribute new elements to the
scenarios concerning the early Bantu expansion related to the adoption of agriculture. To do so, we processed two independently collected datasets
accounting for a total of 126 different linguistic varieties consisting of Swadesh word lists. The languages, belonging to the A and B zones defined
by Guthrie (A75; B10-20-30-40-50-60-70), have been classified using a validated pronunciation distance measure (see below) and the results
compared to the genetic diversity of 17 ethnic groups from Gabon. To further explore the cultural diversity of this region, we addressed traditional
musical practices (Le Bomin et al. 2016).
Methods. Linguistic data have been processed using the Levenshtein method that enables one to compare the pronunciation of the same concepts
(phonemes) in a pairwise fashion, leading to the computation of differences that can be aggregated in a single general distance matrix.
From published data, we have attempted to make the genetic dataset (Y-chromosome, mitochondrial DNA,) more representative of the 17 ethnic
groups studied by filtering-off all the DNA donors that were born outside the areas typically inhabited by their respective ethnolinguistic communities.
Autosomal data (Patin et al. 2017) have been considered too, but without improving their representativeness. Musical differences, coded as
multistate characters, led to the computation of a phylogenetic tree. All classifications have been tested for their robustness by bootstrap resampling
methods.
Results. The two linguistic datasets lead to similar results, showing that the languages cluster into a comparable number of groups. Levenshtein
linguistic distances are fully compatible with the classification of Grollemund et al. (2015) based on shared vocabulary, where sharing is
operationalized as the percentage of words (not) having the same historical origin. This coding is unnecessary with the Levenshtein method, making
it simpler to use and, for the larger amount of information it accounts for, more sensitive.
On the genetic side, the re-analyses of the 17 ethnic groups (representative of all the linguistic groups) did not show noteworthy signals of
differentiation, meaning that the whole population is quite homogeneous. There are measurable, though very weak, differences concerning parental
markers, the Y-chr. showing a higher level of differentiation and being pointing to the different profile of the Fang population (A75), which we
assume is due to its recent immigration to Gabon from the north. A genetic diversity that is lower for the mitochondrial DNA than it is for the Y-
chromosome probably corresponds to a differential migration rate related to the widespread practice of patrilocality in which women move into their
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husbands’ residences after marriage, a behavior that happens even in matrilineal societies. Autosomal genome wide typing for all the groups
confirms the specificity of the Fang people but also shows that the linguistic group B20 is genetically more differentiated than all the other
populations (B10, B30, B40, B50, B60, B70) that are close to each other.
The classification of musical diversity, as originally published, did not match the classification of the languages spoken by the same populations.
Nevertheless, when re-processing the data of Le Bomin et al. (2016) by adopting resampling techniques, we obtain new results that are compatible
with linguistic data. This outcome raises theoretical and methodological questions that are relevant to the conference as they concern inherent
aspects of culture that might be part of a package transmitted as a whole (for example gastronomic traditions and language).
Conclusions. Palaeoenvironmental and archaeological studies show that the opening of savannah plains on the costal region of Gabon started
about 4000 ybp, with a Neolithization process dated at around 3500 ybp (and a detectable sedentarization starting at 2700 ybp in northern Gabon.
According to linguistic cartography we suggest that B20 varieties emerged after an early migration southwards of Cameroon, through the rainforest,
to the north of Gabon, a result that is compatible with genome-wide autosomal data (Patin et al. 2017). It is possible that a second early migration
wave(s) took place by following the Atlantic coast from Cameroon to Gabon (varieties B10 and B30). Other languages probably emerged or arrived
later (B40; B50; B60; B70), and the ethnic groups speaking them long remained within a defined geographic region as shown by their
geographically-continuous linguistic areas.
Besides the Fang (A75) and the Kele (B20) group, the Bantu-speaking populations of Gabon are genetically homogeneous, meaning that the
different migration waves concerned closely related people, therefore confirming the fast demic diffusion process of the Bantu-speaking populations.
Nevertheless, 3000 years of history are enough to allow a genetic differentiation detectable on parental markers (Y-chromosome, mitochondrial
DNA). The fact that we do not find evidence for it, suggests that considerable gene flow has taken place over this time and that the construction of
social identity and ethnical belonging may better rely on social norms and cultural aspects than on ancestry.
To end, we would like to mention the population crises starting 1000 years ago (Oslisly et al. 2013) that was brutal enough to scramble pre-existing
patterns of genetic and cultural diversity and which leads us suspect that the later cultural and genetic variability of Gabon has been largely shaped
by population dynamics happened over the last millennium. They seem to cloud the historical signal.
Acknowledgements. We thank Professors J.-M. Hombert and L. Van der Veen (Laboratory Dynamique du langage, Lyon, France) for giving
access to the linguistic database and for their continued support over the years. We are indebted to Dr. Pierre Darlu for the reanalysis of music
data from
References Le Bomin et al. 2016. The evolution of musical diversity : the key role of vertical transmission. PLoS one, https://doi.org/10.1371/journal.pone.0151570
Patin et al. 2017. Disperals and genetic adaptation of bantu-speaking populations in Africa and North America. Science 356: 543-546.
Oslisly et al. 2013. West central African peoples: survey of radiocarbon dates over the past 4000 years. In: A.J. Jull, C. Hatté eds., Proceedings of the 21st international radiocarbon
conference. Radiocarbon 55: 1377-1382.
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Key Speaker
Anthropol. Adrián Martínez-Mesa
PHYS. ANTHROPOL. DEPARTMENT-INAH, MEXICO
WHY THE FIRST SETTLERS (PRECERAMIC) MIGRATED TO THE MEXICAN BASIN?
Adrián Martinez-Meza*, Carol Deniss Prieto*, Miguel Angel Moreno-Galeana**, Maria de Lourdes Muñoz**
*Dirección de antropología física del Instituto Nacional de Antropología e Historia; **Department of Genetics and Molecular Biology, CINVESTAV-IPN, Mexico City,
Mexico.
Key words: Physical Antropology, Archeology, preceramic period
Mexico is one of the places where the first settlers arrived and corresponds to the lithic stage (30,000-2,000 BC). One of such sites is the Cuenca
of México, which encompasses four valleys in the central part of the Mexican territory, located within the hydrological region called Pánuco and the
"Valle de México and Cutzamala System", with minimum elevations between 2,150 m of altitude 2,390 m in its valleys and 5,800 m in the volcanoes
that surround it, although with an average elevation of 2,900 m of the mountains that close it, within which are the cities of Pachuca, Tizayuca,
Amecameca, Texcoco, Apan, among others and almost all the Metropolitan Zone of the Valley of Mexico, with the exception of the zone pertaining
to the municipality of Huixquilucan. This basin extends in an area of 16,424 km ², comprising 100 municipalities and is divided politically between
four Entities State of Mexico, City of Mexico, Hidalgo and Tlaxcala with a small area in the state of Puebla.
The first settlers of the basin were nomads, and as such, they moved throughout the entire American continent in search of food. For their
subsistence, they depended on the collection of plants, lacustrine animals and the hunting of smaller animals, although occasionally they took
advantage of a larger animal, such as a mammoth of which there is evidence in the State of Mexico where they found a splinter obsidian and two
of andesite with dating of 21,000 and 24,350 years BC.
The Basin of Mexico was always an attractive place for the establishment of human settlements, due to the geographic conditions and great amount
of natural resources that the region offers. Therefore, the first settlers saw the great advantages of establishing themselves in the basin. Based on
the dating of the remaining skeletal remains we can say that the first human settlements in the basin are at least about 15,000 years BC., but it is
known that long before there were sedimentary groups of humans that prowled the region. After the emergence of agriculture in the basin of Mexico,
probably around 2,500 BC. the growth of the population increased dramatically. Larger communities were created with features of an organized
culture, which allowed the development of technologies to modify the environment in their favor. In 1,200 BC began the development of the first
large city of Cuicuilco, which reached a population of 20,000 inhabitants, around 200 BC. Although this city disappeared after the eruption of the
volcano Xitle eruption, causing migrations and rearrangements of the population; it had a great influence in what the anthropologists call
Mesoamerica, demonstrating the preponderant role that since then the region had in the center zone of which today we know as Mexico. In
conclusion, the geographic conditions and great amount of natural resources that the basin of Mexico had attracted the first human populations for
their settlement.
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Key Speaker
Archeol. Enrique Alcalá-Castañeda
TEMPLO MAYOR MUSEUM-INAH, MEXICO
PUYIL CAVE
Introduction. Among Mesoamerican cultures the caves had a significant meaning according to the cosmogonic conception of the world. It is so
caves were considered the source of life and food, is where dwell the gods, creators and the sustenance of man, here is where the water is born
and where the vegetation grows, it is here where revered gods responsible for providing everything the man needed to maintain a balance with the
world (Lopez Austin: 1992).
The cave of Puyil in the State of Tabasco, is a pre-Hispanic context rich in burial evidence with more than 30 tanks mortuary, distributed in small
cavities, sills and spaces of the floor surface that makes up the Chambers and galleries formed by clast carbonate from leaks and very likely, of
underground rivers. According to the ornamental elements, as ritual objects that accompany these individuals, we know that it is a burial practice
of pre-Colombian tradition.
Methods. In this way, in November 2007 the first phase of the project was carried out in field work. Thus, explore and expand our knowledge about
the context through the registry and gathering the material information exposed in this cave, obtaining a significant amount of remains for study in
the laboratory, samples carbon and ceramic surface materials, as well as cultural material remains associated with bones deposits made in different
kind material: beads, axes and pendants Jadeite (28 items), beads shell (184 items) earrings, Flint knives (4 items), prismatic knives (6 items),
pyrite mirrors (2 items), pieces made in bone (3 elements), clay (2 items), beads and stone earrings (22 items), in total 251 associated items.
Results. According to the registration out field in this first season, we know that there were deposited more than 30 funerary remains of individuals:
male and female; several in a very advanced state of erosion; some them primary type and others secondary. Most of them, located between the
three deepest Chambers of the cave (4, 5 and 6) and in general, arranged with ornamental elements, probably as a distinctive social or particularly
for funerary rituals practiced in this cavern: pectoral, earrings, necklaces, bracelets, applications, as well as other ceremonial objects: leaflets,
prismatic knives, axes, plaques of shell turtle, vases, mirrors and cinnabar. Processing material is varied between: shell, jade, pyrite, obsidian,
Flint, bone turtle, pottery and animal bone. In addition, were also recorded remains clay, both contemporary and Prehispanic, mainly of the first
cameras.
Conclusions. According to the context of the cave, we can see that the material universe turns out to be a relevant part that will take us to a better
understanding of the cultural events manifested to the interior of the cave of Puyil. Likewise, according to the location of each funeral deposit inside
the cave, we can infer that there is a clear hierarchy in the deposition of these.
References Duday, Henry, Antropología biológica de campo, tafonomía y arqueología de la muerte, Paris, CNRS, 1997.
Olmedo, Bertina y Carlos González, “Aéreas de actividad relacionadas con el trabajo del jade” en Linda Manzanilla (ed), Unidades Habitacionales mesoamericanas y sus áreas de
actividad, UNAM, México, 1986, pp. 75-102.
Velázquez Castro, Adrián. El simbolismo de los objetos de concha de las ofrendas del Templo Mayor de Tenochtitlán de los objetos de concha del Templo Mayor de Tenochtitlan,
tesis de maestría en historia y etnohistoria, México, ENAH. 1998
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Key Speaker
Dr. Igor Mokrousov
ST. PETERSBURG PASTEUR INSTITUTE, RUSSIA
MAJOR IMPACT OF MASSIVE MIGRATION ON SPREAD OF EPIDEMIC
MYCOBACTERIUM TUBERCULOSIS STRAINS
Key words: tuberculosis, phylogeography, next generation sequencing, drug resistance, migration
Introduction. Mycobacterium tuberculosis has clonal population structure whereas its different lineages are marked with different evolutionary
pathways, and some of them have undergone a dramatic global dissemination. Furthermore, clinically/epidemiologically significant compact
clusters have been identified by high-resolution genotyping. I will review M. tuberculosis clones from different genotype families (Beijing, Latin-
American Mediterranean, NEW-1/Iran) that emerge in Russia and some neighboring countries and have impact on health situation on more global
scale due to particular migration flows.
Methods. The present study combined the original research, data-mining and systematic and critical review. Molecular data on M. tuberculosis
strains were obtained by both classical genotyping and WGS/NGS analysis. The published literature and available databases were searched to
retrieve information about M. tuberculosis genotypes.
Results. A strong association with multi/extensively drug-resistant tuberculosis (TB) has been shown for Beijing B0/W148 strain that I termed a
successful Russian clone. It likely originated in Siberia and its primary dispersal was likely driven by a massive population outflow from Siberia to
European Russia in the 1960-80s. Its successful dissemination was triggered by an advent and wide use of the modern anti-TB drugs in the same
years and was due to its remarkable capacity to acquire drug resistance. However, B0/W148 strains brought to Europe with immigrants from Russia
and other FSU countries, do not necessarily spread in the new autochthonous population.
For another significant genetic family of M. tuberculosis, LAM (Latin American Mediterranean), we also found an emerging epidemic sublineage,
that is actively spread within the European part of Russia and Eastern Europe. In contrast, Ibero-American sublineage LAM RD-Rio is not so
widespread as claimed and its dispersal is shaped by global migration flows rather than its special properties. LAM RD-Rio strains are found in
South America (area of primary circulation) and North America and Western Europe (due to immigration) but only sporadically in Russia (tourism
only).
Finally, the NEW-1 family is an intriguing under-estimated M. tuberculosis genotype prevalent in Iran. It was highly prevalent in the South Iran and
north-east decreasing gradient towards Central Asia could be observed. Its historical primary dispersal towards North India and China likely took
place via the Silk Road. This family has re-attracted attention very recently: due to the significantly growing circulation in Iran (including emergence
in North Iran) and neighbors and a capacity to rapidly acquire drug resistance. Particular migration flows in this part of Asia (especially, Afghan
refugees) make these strains of special concern.
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Conclusions. Mass immigration and a high prevalence in the initial population present decisive factors that define the spread of M. tuberculosis
strains. On the other hand, manifestation of the strains’s pathobiology can be changed (counteracted) by genetic factors of the human host
population. New emerging strain becomes emerging in its area of origin, where its parental strain was circulating. But not necessarily it will be
emerging/epidemic elsewhere. Mass migration is required to visibly increase prevalence rate of imported M. tuberculosis strain in new location.
Human exchange/travel is not enough to bring and settle down new M. tuberculosis strain in an indigenous population: speculatively, a kind of
human resistance is developed in local population through its co-existence with historical local clones, and acting against imported clones.
Acknowledgements. Russian Science Foundation (project #14-14-00292).
References Mokrousov I. 2016. Emerging resistant clone of Mycobacterium tuberculosis in West Asia. Lancet Infectious Diseases 16: 1326-1327.
Mokrousov I, Vyazovaya A, Iwamoto T, Skiba Y, Pole I, Zhdanova S, Arikawa K, Sinkov V, Umpeleva T, Valcheva V, Alvarez Figueroa M, Ranka R, Jansone I, Ogarkov O, Zhuravlev
V, Narvskaya O. 2016. Latin-American-Mediterranean lineage of Mycobacterium tuberculosis: Human traces across pathogen's phylogeography. Molecular Phylogenetics and Evolution
99:133-143.
Mokrousov I. 2013. Insights into the origin, emergence, and current spread of a successful Russian clone of Mycobacterium tuberculosis. Clinical Microbiology Reviews 26:342-360.
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Key Speaker
Dr. Ben Krause-Kyora
INSTITUTE FOR CLINICAL MOLECULAR BIOLOGY
UNIVERSITY OF KIEL, GERMANY
LEPROSY IN ANCIENT SAMPLES AND AGING
Institute for Clinical Molecular Biology, University Kiel [email protected]
Key words: Leprosy, HLA, pathogen genomics, host genetics
Leprosy, a chronic infectious disease caused by Mycobacterium leprae (M. leprae), was endemic in medieval Europe, from where it almost
completely disappeared in the 16th century. A recent ancient DNA (aDNA) study of medieval leprosy cases suggests that this decline is unlikely to
be explained by mutations in the pathogen genome leading, for instance, to a loss of virulence factors. However, changes in host genetics over the
past 500 years may well have played a role in the disappearance of leprosy in Europe. Here, we conducted an aDNA investigation in skeletal
remains of individuals suffering from the severe form of lepromatous leprosy (LL) that were excavated from the St. Jørgen leprosarium (11-14th
century AD) in Odense, Denmark. First, we generated ten complete high-coverage M. leprae genomes. Eight of the ten strains clustered and were
very similar to extant types in European squirrels. Further, we analysed human leukocyte antigen (HLA) genetic variation in LL-positive individuals
from St. Jørgen. To this end, we developed an aDNA method that targets the most polymorphic HLA class I and II genes. We showed a statistically
significant association between HLA class II variation and LL-susceptibility in medieval Europeans.
Acknowledgements. Marcel Nutsua1, Lisa Boehme1, Dorthe Dangvard Pedersen2, Sabin-Christin Kornell1, Dmitriy Drichel3, Marion Bonazzi1,
Lena Möbus1, Peter Tarp2, Julian Susat1, Federica Pierini4, Esther Bosse1, Beatrix Willburger5, Alexander H. Schmidt5, Jürgen Sauter5, Andre
Franke1, Michael Wittig1, Amke Caliebe6, Michael Nothnagel3, Stefan Schreiber1, Tobias L. Lenz4, Jesper L. Boldsen2, Almut Nebel1
Affiliations 1Institute of Clinical Molecular Biology, Kiel University, 24105 Kiel, Germany. 2Unit of Anthropology (ADBOU), Department of Forensic Medicine, University of Southern Denmark, 5260 Odense S, Denmark. 3Cologne Center for Genomics (CCG), Department of Statistical Genetics and Bioinformatics, University of Cologne, 50931 Cologne, Germany. 4Research Group for Evolutionary Immunogenomics, Department of Evolutionary Ecology, Max Planck Institute for Evolutionary Biology, 24306
Plön, Germany. 5DKMS, 72072 Tübingen, Germany. 6Institute of Medical Informatics and Statistics, Kiel University, 24105 Kiel, Germany.
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Key Speaker
Dr. Ravindranath Duggirala
STDOI, UNIVERSITY OF TEXAS RIO GRANDE VALLEY SCHOOL OF MEDICINE, USA
GENETICS OF TYPE 2 DIABETES, OBESITY AND THEIR RELATED TRAITS IN MEXICAN AMERICANS
Key words: Type 2 diabetes, Obesity, Metabolic Syndrome, Genetics, Mexican Americans
Introduction. The twin epidemics of obesity and type 2 diabetes (T2D) have become global public health crises. Unfortunately, children and
adolescents are not spared: the prevalence rates of obesity and T2D has increased dramatically among children and adolescents within the last
few decades globally. In the US, minority groups such as Mexican-origin Hispanics (Mexican Americans [MAs]) have a disproportionate burden of
T2D, obesity and their clinical correlates. Over the past 25 years, we have been examining the genetic factors that influence susceptibility to
complex diseases including T2D, obesity and their related traits in MAs in San Antonio, Texas, using data from several well -characterized
large family studies. Therefore, the objective of this presentation is an overview of our genetic investigations of T2D and i ts related traits in
MAs, both adults and children.
Methods. The phenotypic, genotypic, sequencing, and covariate data used represent the San Antonio MA Family Studies (SAMAFS), and their
related study involving children and adolescents called the San Antonio Family Assessment of Metabolic Risk Indicators in Youth (SAFARI) study.
All family data sets were analyzed using the statistical genetic analytical procedures as implemented in the computer program SOLAR. In
addition, T2D-related genetic studies through our collaborations (e.g., T2D-GENES Consortium) were also discussed.
Results. We localized susceptibility genes/variants for T2D and its related traits such as obesity, gallbladder disease, and metabolic syndrome
(MS) using data from SAMAFS and genome-wide linkage and association studies. For example, we performed genome-wide association analysis
of T2D, and the best hit which reached genome-wide significance was associated with marker rs2237888 (KCNQ1 gene, an established T2D risk
locus). A TCF7L2 gene variant (rs7901695) also showed strong association signal, another established T2D risk locus, which was related to our
previous T2D linkage finding on chromosome 10q in MAs. Several gene discovery activities related to various disease conditions are in progress.
Our SAFARI data revealed that MA children were burdened with relatively high rates of overweight/obesity, pre-diabetes, and MS. A majority of
the MS-related traits were found to be under strong genetic influences.
Conclusions. Our ongoing genetic studies of T2D-related traits in MAs have direct relevance to Mexicans, given that Mexico is the largest
contributor of immigrants to the US and that both the US and Mexico are highly burdened with the T2D-related traits, both in adults and children.
Thus, findings from our studies would have tremendous relevance to both countries for developing effective strategies to prevent or treat persons
at risk for T2D and its related diseases.
Acknowledgements. Our studies have been mainly funded by the National Institutes of Health [NIH] (e.g., HL045222, DK047482, DK053889,
HD049051, DK085524, MH078111, HL113323, DK057295), and a Veteran Administration Epidemiologic Grant.
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References Duggirala, R., Blangero, J., Almasy, L., Dyer, T.D., Williams, K.L., Leach, R.J., O'Connell, P., Stern M.P. (1999). Linkage of type 2 diabetes mellitus and of age at onset to a genetic
location on chromosome 10q in Mexican Americans. Am J Hum Genet. 64(4):1127-40.
Fowler, S.P., Puppala, S., Arya, R., Chittoor, G., Farook, V.S., Schneider, J., Resendez, R.G., Upadhayay, R.P., Vandeberg, J., Hunt, K.J., Bradshaw, B., Cersosimo, E., Vandeberg,
J.L., Almasy, L., Curran, J.E., Comuzzie, A.G., Lehman, D.M., Jenkinson, C.P., Lynch, J.L., DeFronzo, R.A., Blangero, J., Hale, D.E., Duggirala, R. (2013). Genetic epidemiology of
cardiometabolic risk factors and their clustering patterns in Mexican American children and adolescents: the SAFARI Study. Hum Genet 132(9):1059-71.
Fuchsberger, C., et al. [multi-author T2D-GENES Consortium paper] (2016). The genetic architecture of type 2 diabetes. Nature. 536(7614):41-7.
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Key Speaker
Dr. José Álvaro Aguilar-Satién
INMUNO VIROLOGY UNIT OF MEDICAL RESEARCH IN INMUNOLOGY,
PEDIATRIC HOSPITAL CMN S-XXI, MEXICO
ATYPICAL RESERVOIRS OF DENGUE VIRUS: VEHICLES FOR VIRUS MIGRATION?
Aguilar Setién A, Abundes-Gallegos J, Cenia Salas-Rojas M, Galvez-Romero G, Obregón-Morales CY, Morales-Malacara JB, Chomel BB, Stuckey
MJ, García-Baltazar A, Aréchiga Ceballos N.
Introduction. Many arthropod species, not yet identified as potential vectors, could play a role in the replication, maintenance and advance of viral
cycles. The presence of different flaviviruses has been reported in various arthropod species such as Uroteania and Culex spp., suggesting a more
complex epidemiology yet to be fully described (1). We have previously reported the presence of DENV in insectivorous and frugivorous bats from
Mexico (2,3). In French Guyana, DENV has also been reported in bats, marsupials, and rodents (4). The mechanism of DENV infection of these
species is still poorly understood, then we look for the presence of the virus in the specific blood-fed arthropods that parasite bats. Additionally we
tested the susceptibility to an experimental infection with a laboratory strain of DENV of the ectoparasitic species resulting positive to DENV in the
field. In this work the presence of DENV in atypical vectors and its susceptibility to an experimental infection with a reference strain of DENV. The
implications of the obtained results on DENV migration are discussed.
Methods. Common vampire bats (Desmodus rotundus) were trapped using mist nets from a cave roost at 2100 m altitude (18° 54’ 43” N; 98° 59’
21” W) in Progreso, Hidalgo, Mexico (n=160). A total of 557 biting flies were collected from bat hosts, belonging to two different species: Strebla
wiedemanni (N = 121) and Trichobius parasiticus (N = 436). Pools of 5–9 flies were formed, separated by fly species. RT-PCR and seminested
PCR was performed using a primer set (FlaviPF1S, FlaviPR2bis and FlaviPF3S) directed against the generic flavivirus NS5 gene. The recovered
NS5 sequences were aligned using ClustalX ver. 2.1 with sequences of other flaviviruses available in GenBank (NCBI site). A phylogenetic
inference analysis was performed using the maximum likelihood algorithm implemented in PhyML.
Ex vivo organ cultures of the species of biting flies resulting positive against flavivirus by PCR, were established and infected with 1 X 105.2 UFP/mL
of DENV 2 New Guinea strain. As control non inoculated organs were used. Supernatants (250 uL) from each inoculated organ and from controls
were collected at 48 and 96 hours pi. DENV was titrated by Plaque Formation Units (PFU) technique. At 96 pi some inoculated organs were fixed
and treated for their observation in the electronic and confocal microscopes.
Results. From the screened biting fly pools (Strebla wiedemanni and Trichobius parasiticus), 38/96 (39.6%) were positive to flavivirus NS5 gene.
Phylogenetic inference analysis showed that six sequences clustered with DENV (bootstrap 53.5%). The experimental infection of the ex vivo
organ cultures of S. wiedemanni with DENV 2 showed viral production in all organs that increases progressively reaching the highest value at 96
h . The titres obtained (106.5 PFU / mL on average), are similar to those obtained in C6 / 36 cells (106 PFU / mL). The observation in the confocal
microscope of the organs infected with DV, stained with a fluorescent conjugate directed against DENV, showed tissues (tracheoles and fat cells
of female reproductive tract) with high affinity for DENV. In the electron microscope large amounts of DEN virions were observed in digestive and
reproductive tract of males. In tracheoles, viral particles emerged from the outer tissue into the lumen.
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Conclusions. The presence of DENV was found by PCR in S. wiedemanni ectoparasites of D. rotundus in an area located at 2100 meters altitude
in which, to date no dengue cases have been reported in humans (Progreso Hidalgo Mexico). The susceptibility of this biting flies to an experimental
infection of DENV was also confirmed. Microscopic studies showed tissues of S. wiedemanni (tracheoles and fat cells of female reproductive
tract) with high affinity for DENV. The presence of DENV in atypical reservoirs and areas could be a factor that helps the geographical advance of
the disease.
Acknowledgements. We thank Oliver López Villegas and Vadim Pérez Koldenkova for the microscopic studies, and Ignacio Olave-Leyva as
fieldwork contact. UC-MEXUS FIS/IMSS/PROT/1055 funded this research.
References 1. Junglen S, Drosten C. Virus discovery and recent insights into virus diversity in arthropods. Curr Opin Microbiol. 2013 Aug;16(4): 507-13.
2. Aguilar‐Setién A, Romero‐Almaráz ML, Sánchez‐Hernández C, Figueroa R, Juárez‐Palma LP, García‐Flores MM, Vázquez‐Salinas C, Salas‐Rojas M, Hidalgo‐Martínez AC, Pierlé SA, García‐
Estrada C, Ramos C. Dengue virus in Mexican bats. Epidemiol Infect 2008;136: 1678-1683.
3. Sotomayor-Bonilla J, Chaves A, Rico-Chavéz O, Rostal MK, Ojeda-Flores R, Salas-Rojas M, Aguilar-Setién Á, Ibáñez-Bernal S, Barbachano-Guerrero A, Gutiérrez-Espeleta G, Aguilar-Faisal JL,
Aguirre AA, Daszak P, Suzán G. Dengue virus in bats from Southeastern Mexico. Am J Trop Med Hyg 2014;91: 129-131.
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Key Speaker
Dr. Adán Valladares-Salgado
BIOCHEMISTRY MEDICAL RESEARCH UNIT
CMN S-XXI, MEXICO
ALLELIC FREQUENCY OF GENES ASSOCIATED WITH TYPE 2 DIABETES
Key words: Type 2 diabetes, Ancestry, Alleles
Introduction. Type 2 diabetes (T2D) is a complex disease characterized by insulin resistance and beta cell dysfunction. T2D accounts for 90-95%
of diabetes cases, and is an important public health concern throughout the World. The study of T2D susceptibility with the approach of GWAS
have been realized predominantly in populations of European ancestry. The GWAS performed in populations from other ancestry groups have
provided initial evidence of overlap in T2D susceptibility loci between ancestry groups, as well as for coincident risk alleles at lead SNPs across
diverse populations. The underlying causal variants at many of these loci are shared across ancestry groups and thus arose before migration of
the human population out of Africa. However, there are also low frequency variants in Mexico and other ethnic groups.
Methods. A GWAS was performed in 3097 individuals living in Mexico City, of these 1865 were subjects with T2D (1200 females and 665 males)
and 1232 were normoglycaemic controls (528 female and 704 males). For the association analysis, several softwares were used and an associated
allele was considered when the P value was less than 10-8.
Results. The average proportions of Native American, European and West African admixture were estimated as 63.6, 33.6, and 2.8 %, respectively.
Some variants were association in European and Mexican population. Other common variants were modest effect but are homogeneous across
ancestry groups.
Conclusions. We report the results of a GWA study of type 2 diabetes in an admixed sample from Mexico City and of a trans-ethnic meta-analysis.
It is critical to carry out additional GWA studies in our populations, which have a high prevalence of type 2 diabetes. Most of the recent advances
in our knowledge of the genetic architecture of type 2 diabetes have been driven primarily by GWA studies in European populations, which have
sampled tens of thousands of individuals. The meta-analysis showed some variants are associated in both populations.
Acknowledgements. Grupo de la UIM en Bioquímica del CMN, sigloXXI, IMSS. Esteban Parra. University of Toronto at Mississagua, Ca.
Convocatoria SSA/IMMS/ISSSTE-CONACYT 2010-2, clave 150352
References 1. Verónica L. Martinez-Marignac, Adan Valladares, Emily Cameron, et al. Admixture in Mexico City: implications for admixture mapping of type 2 diabetes genetic risk factors.
Diabetes. Hum Genet 2007;120:807-819.
2. DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Asian Genetic Epidemiology Network Type 2 Diabetes (AGEN-T2D) Consortium, South Asian Type 2
Diabetes (SAT2D) Consortium, Mexican American Type 2 Diabetes (MAT2D) Consortium & Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic
Samples (T2D-GENES) Consortium. Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet. 2014;
46(3):234-44.
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Key Speaker
Dr. Normand García-Hernández
HUMAN GENETICS MEDICAL RESEARCH UNIT
CMN S-XXI, MEXICO
EXOGENOUS DNA AT THE SERVICE OF EVOLUTION: REMODELING OF THE HUMAN GENOME OVER TIME,
INSERTIONAL MUTAGENESIS, HERV'S AND CANCER
Normand García Hernández, Alejandro Córdova Solis, Teresa Juárez Cedillo, Pina Jiménez Emmanuel, Moctezuma Meza Christian, Fabio A.
Salamanca Gómez
Key words: Retrovirus, HERV’s, cancer, HMTV, and evolution
Introduction. Numerous studies have identified viruses involved in the biogenesis of cancer, when viruses pass between species become
aggressive. Mouse mammary tumor virus (MMTV) has been extensively studied in mice and is known to contribute to mammary tumors by
insertional mutagenesis, due the integration of the viral genome into the host DNA that leads to gene expression and cell cycle alterations. Breast
cancer reports from different countries indicate the presence of short sequences integrated in DNA with high similarity to (MMTV) and low similarity
with Endogenous Human Retroviruses (HERVs). Also transcripts and viral particles with β-retrovirus structure have been detected in culture media,
providing evidence of possible mechanisms of infection in humans involving nasal mucosa, saliva and zoonoses.
Methods. From breast tumors and healthy tissue DNA from 458 Mexican women, we evaluated the presence of a fragment of the HMTV (MMTV-
like) Env gene by nested PCR. We performed a high-throughput retroviral insertional mutagenesis screen in 50 samples, we determined HMTV
insertion sites as well as HERV's in the human genome through NGS; adapted to the method of splinkerette, taking advantage of Long Terminal
Repetitions (LTR's) flanking their genomes
Results. The prevalence of HMTV in the tumor tissues was 12.4%, and that in the non-affected breast tissues was 15.7%. In addition, the
prevalence of HMTV in both the tumor and adjacent tissues from the same patient was 8.3%. An increased frequency of the virus was observed in
patients aged 46–55 years. In relation to the sequences found Short Intermediate Nuclear Elements (SINE), with Alu elements as more numerous
members corresponding to 10.6%. The Long Interspersed Nuclear Elements (LINEs), with L1 elements are its most numerous members, covering
16.9% and Human Endogenous Retroviruses (HERV's) occupying 8%. We found genes adjacent to viral insertion related to breast cancer such as
WNT4, MAD1L1, MEF2D, NCOR2, PRKCZ, SKI, SNX9, TNS1, ALK, CACNA1E, ELAVL1, PRDM16, RASA3, RGS12, RPS6KA2, SCUBE1,
SLC39A2, THRSP, among others.
Conclusions. Results coincide with works on MMTV in mice, breast cancer in humans and other cancers such as lung, prostate and leukemia.
We identified common insertion sites, found genes not previously to be associated with mammary cancer or previously been linked to cancer in
general. Currently, the genome HMTV is not reported, therefore the complete sequence, proviral gene structure and its biogenesis in breast cancer
are unknown.
Acknowledgements. The funding sources CONACyT grants and the FIS IMSS grant.
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References Cedro-Tanda A, et al: Prevalence of HMTV in breast carcinomas and unaffected tissue from Mexican women. BMC Cancer 2014, 14:942.
Theodorou V, et al.: MMTV insertional mutagenesis identifies genes, gene families and pathways involved in mammary cancer. Nat Genet 2007, 39: 759-769.
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Key Speaker
Dr. Christopher Jenkinson
STDOI, UNIVERSITY OF TEXAS RIO GRANDE VALLEY SCHOOL OF MEDICINE, USA
ADIPOSE ADH1B AS A GLOBAL MODULATOR OF “OBESO-INSULIN RESISTANCE”
IN MULTIETHNIC POPULATIONS Jenkinson CP., Tripathy D, Cromack DT, Kumar S, Arya R, Curran JE, Blangero J, DeFronzo RA, Duggirala R,
Key words: ADH1B, insulin resistance, obesity, transcriptomics, type 2 diabetes
Introduction. Type 2 diabetes (T2D) is a complex metabolic disease that is more prevalent in ethnic groups such as Mexican Americans, and is
strongly associated with the risk factors obesity and insulin resistance. The goal of this study was to detect complex disease predisposing genes
using the technique of whole genome gene expression analysis, also known as transcriptomics. We performed transcriptomic analysis of gene
expression in adipose tissue biopsies from a Mexican American population cohort from San Antonio, Texas, to detect common patterns of gene
regulation associated with obesity and insulin resistance. We detected a novel gene, alcohol dehydrogenase 1B (ADH1B) which has not previously
been recognized as a candidate gene for obesity, insulin resistance, or T2D.
Methods. Basal fasting RNA was extracted from adipose tissue biopsies from 75 unrelated individuals, and gene expression data generated on
the Illumina BeadArray platform. The number of gene probes with significant expression above baseline was approximately 31,000. We performed
multiple regression analysis of all probes with 15 key metabolic traits. We investigated the causal functional relationship between ADH1B expression
and intracellular correlates of obesity and insulin resistance using ADH1B gene knockdown in human adipocyte primary culture. We performed a
meta-analysis of ADH1B gene expression correlation with obesity and insulin resistance in 3 additional human population cohorts: Pima Indians
from Arizona, African Americans from Wake Forest University and Europeans from the TwinsUK study.
Results. ADH1B mRNA expression was highly correlated with insulin resistance traits in multiple human populations. Its expression was reduced
in obesity, an insulin resistant state. It was causally related to insulin signaling and its expression (reduced by obesity or ADH1B knockdown) was
stimulated by insulin. Knockdown of ADH1B was associated with decreased insulin-mediated glucose uptake. Inhibition of AKT, a component of
the insulin signaling pathway, was associated with decreased expression of ADH1B.
Conclusions. ADH1B represents a global modulator of obese insulin resistance in multiple human populations.
Acknowledgements. National Institutes of Health (NIDDK 1R01DK079195 to CPJ); Veterans Administration (Merit Review Award to CPJ).
References 1. Winnier DA, Fourcaudot M, Norton L, Abdul-Ghani MA, Hu SL, Farook VS, Coletta DK, Kumar S, Sobha Puppala S, Chittoor G, Dyer TD, Arya R, Carless MA, Lehman DM, Curran
JE, Cromack DT, Tripathy D, Blangero J, Duggirala R, Göring HH, DeFronzo RA, Jenkinson CP. Transcriptomic identification of ADH1B as a novel candidate gene for obesity and
insulin resistance in human adipose tissue in Mexican Americans from the Veterans Administration Genetic Epidemiology Study (VAGES). PLoS ONE, 2015. Apr 1;10(4).
2. Jenkinson, CP, Göring, HHH, Arya, R, Blangero, J, Duggirala, R, Ralph A. DeFronzo, RA. Review: Transcriptomics in type 2 diabetes: Bridging the gap between genotype and
phenotype. Genom Data. 2015 Dec 17;8:25-36.
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Oral Presentation
Dr. Evelyne Heyer
MUSÉE DE L’HOMME, FRANCE
MIGRATIONS IN INNER ASIA: DECIPHERING THE MIGRATORY BEHAVIORS BASED
ON GENETIC AND ETHNOLOGICAL DATA
E Heyera with N Marchia, L Ségurela, T Hegayb
aEco-anthropologie et Ethnobiologie, UMR 7206 CNRS, Musée de l’Homme, MNHN, Univ Paris Diderot, Sorbonne Paris Cité, F-75016, Paris, France b Republican Scientific Center of Immunology, Ministry of Public Health, Tashkent, Uzbekistan
Inner Asia, by its location in the Eurasian heartland, is a migratory crossroads of human populations and represents a region where many ethnic
groups with different languages and social organizations co-exist. In this context, we propose to explore how geographic and cultural factors
respectively influence the demographic histories and migration patterns of these populations.
First, we will describe what we have learned on the genetic diversity and history of settlement of this part of the world, based on genome-wide SNP
data from both current day populations and ancient DNA from the Bronze Age. Then, we will present analyses based on uniparental markers
(maternally inherited mitochondrial DNA and paternally inherited Y-chromosome) in order to get insights into the sex-specific migration patterns at
various geographical scales. For this, we obtained genetic data for 1,485 individuals sampled in 39 populations, not only in Central Asia (Uzbekistan,
Tajikistan, and Kyrgyzstan) but also in Northern Asia (Southern Siberia: Buryatia, Altai and Tuva Republics, and Mongolia), which are home to the
same ethnic groups. This allowed us to show that specific cultural behaviors, especially patrilineality and patrilocality, leave a detectable signature
on the sex-specific genetic structure. But this signature is different at small versus large geographical scale, and depends on sex: ethnicity strongly
impacts the genetic diversity on the Y chromosome, but geography better explains that of the mtDNA.
We then aimed to explore the hypothesis that migration can be a strategy to limit inbreeding. In order to do so, we collected both ethnological and
genomic data for 369 men and 177 women in 18 populations across Inner Asia (Uzbekistan, Tajikistan, Kyrgyzstan, Siberia and Mongolia). Based
on genome-wide SNP data, we estimated inbreeding level at the population and individual levels, and based on ethnological data, we estimated
geographical exogamy for each couple. We found that the population social organization (patrilineal or cognatic) correlates to differences in
dispersal behaviors, but the population exogamy rates correlate neither with their proportion of inbred individuals, nor with their intra-population
genetic diversity. Surprisingly, when focusing on Turko-Mongols at the individual level, descendants from exogamous couples are more inbred
than descendants from endogamous couples, except for large distances (>40 km). These results illustrate that, in Inner Asia, geographical exogamy
is not always synonym of outbreeding and is therefore not efficient for increasing genetic diversity, nor for avoiding inbreeding (at least at distances
below 40 km).
In conclusion, Inner Asia is a case-study of how cultural behaviors, notably matrimonial rules, can impact the migration patterns and therefore the
genetic diversity of our species.
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Oral Presentation
Dr. M. J. Mosher
WESTERN WASHINGTON UNIVERSITY, USA
UNIVERSITY OF KANSAS, USA
WHAT CAN DIET AND EPIGENOME DIVERSITY TELL US ABOUT HUMAN ADAPTATION AND MIGRATION? Key words: Epigenetics, DNA methylation, leptin, lipid profiles
Introduction. Migrating populations face ongoing challenges to match unpredictable sources of nutritional energy with fluctuating environmental
conditions. Modulating successful metabolic phenotypes to maintain energy homeostasis and individual viability requires a complex system of cell
signaling. Epigenetic mechanisms vulnerable to nutritional cues can result in intermediate phenotypes capable of adjusting gene expression for
short-term needs without altering the essential gene sequences required for long-term preservation of the population. Selection may act on these
adaptive metabolic phenotypes, altering epigenetic regulation and affecting evolution. The Leptin gene (LEP) produces a protein signal regulator
of energy homeostasis which also affects lipid metabolism. Documented variations in lipid transport profiles have exposed effects of dietary changes
across populations, yet little is known regarding the influence of epigenetic regulation of LEP by DNA methylation and its influence on lipid metabolic
phenotype.
Methods. Data were acquired from two previous studies, which examined variation in plasma lipids with similar factors of dietary intake,
anthropometrics, and biomarkers of serum leptin, triglycerides, lipoproteins and apolipoproteins from each study. Populations included the Siberian
Western Buryat (n=77) and the Central Kansas Mennonite (n= 152). DNA extracted from peripheral blood during these earlier studies was
analyzed for DNA methylation at seven CpG sites along the leptin core promoter, using bisulfite conversion, PCR, and Pyrosequencing per Qiagen
protocols at the Functional Genomics Laboratory, University of Washington.
To account for differential methylation between anthropometric and lipid phenotypes, linear mixed effect models were applied using the R package
nlme. To account for environmental confounders, the following variables were included as fixed effects: sex, smoking, diet, ethnicity and the CpG
sites with batch effects accounted for as a random effect in the model. A second analysis was completed on data stratified by sex and ethnicity.
Results were imputed. Significance set at p=0.05.
Results. The nlme analyses of all seven CpG sites shows that all seven correlate with variation of the selected lipid phenotypes, but differ
significantly between sex and ethnicity. Additionally, the significant correlations of DNA methylation percentage at each of the seven sites differed,
with a direct correlation with lipoprotein levels in some sites and an inverse in others.
Conclusion. The leptin core promoter is described as a differentially methylation region with two functional sites identified:1) the CEBPαTBS,
believed to play a role in the final maturation step of adipocytes which gives them the capacity to store triglycerides and to synthesize leptin, and
2) the TATA, to begin leptin synthesis. The overall pattern of DNA methylation across seven sites was previously reported to be remarkably stable
among populations from three different continents and the pattern of these two populations remains the same. These findings suggest an influence
of all seven CpG sites of the leptin core promoter play a role in modulating the plasticity of lipid phenotypes, not just the two known functional sites.
The combination of the overall conserved pattern of methylation at this region and the discovery noting opposing effects of different CpG sites with
lipoproteins levels suggest the inheritance of a relatively stable system for leptin modulation of the lipid phenotype in response to dietary challenges.
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Acknowledgements. Wenner-Gren Foundation, Western Washington University Research Grants and the State of Kansas Attorney General’s
Settlement Grant. Phil Melton, University Western Australia.
References
1) Mosher MJ, Melton PE, Stapleton P, Schanfield MS, and Crawford MH. Patterns of DNA
Methylation across the leptin core promoter in four diverse Asian and North American populations. Human Biology. 88(2):121-136.
2) Schlichting CD, Wund MA (2014). Phenotypic plasticity and epigenetic marking: An assessment of evidence for genetic accommodation. Evolution 68(3):656-672.
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Oral Presentation
Dr. Brent Metz
UNIVERSITY OF KANSAS, USA
THE CH’ORTI’ MAYA DIASPORA
ThemCh’orti’ Maya ethnolinguistic region, particularly the archeological site of Copán, has long attracted the attention of archeologists and linguists
for its location on the geographic edge of Maya civilization and the elaborateness and preservation of it hieroglyphic inscriptions. Knowledge of the
Ch’orti’ Maya has followed the same trajectory of anthropological and historical knowledge of culture areas generally over the past 150 years: the
more we learn, the more the assumption of a bounded, coherent culture naturally linked to a “people” and a place on the map dissolves. Examining
the archeology, history, linguistics, and traditions of what is commonly labeled as “Ch’orti’” on ethnolinguistic maps, we find much cultural and
population instability, indeterminacy, and mobility. The first genetic studies in the area (Justice 2012), albeit limited to two municipios, also reveal
population admixture, particularly after Spanish colonization. This presentation will trace what we know about population movements in and out of
the area and suggest the area is ripe for further research.
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Oral Presentation
Dr. María del Rocio Gómez-Ortega
CINVESTAV-IPN, MEXICO
Y-CHROMOSOME DIVERSITY IN AZTLAN DESCENDANTS AND ITS IMPLICATIONS FOR
THE HISTORY OF CENTRAL MEXICO
ROCIO GOMEZ1, MIGUEL G. VILAR2,3, MARCO A. MERAZ4, RAFAEL CAMACHO-MEJORADO1, THEODORE G. SCHURR3, THE
GENOGRAPHIC CONSORTIUM 1Department of Toxicology, CINVESTAV, Mexico City, Mexico; 2Department of Anthropology, University of Pennsylvania, Philadelphia, PA 19104-6398, USA; 3National Geographic Society, Washington, DC 20036 USA; 4Department of Molecular Biomedicine, CINVESTAV, Mexico City, Mexico.
Key words: Y-chromosome, Native Mexicans, peopling of the Americas
Introduction. An amalgam of different peoples (Mexicas, Tepanecas and Alcohuas), the Aztecs settled in the Valley of Mexico (VM), where Toltec
descendants and Totonac-Tepehua populations already resided. Through intermarriage with resident peoples to establish political and military
alliances, the Aztecs gained supreme power in Mesoamerica, and in the process created an ethnically and linguistically diverse empire1. Since the
13th century, their descendants, the contemporary Nahua, have become the largest indigenous population in the VM, where more than 30% of
Amerindian populations currently live2. This history provides a unique opportunity to investigate their population genetic diversity using Y-
chromosome data. Such an analysis of Ychromosome diversity in Native Mexican populations from the VM is also crucial for expanding our
knowledge about the initial colonization of New World.
Methods. We traced the patrilineal origins of 239 men belonging to populations speaking languages from one of three linguistic families (Oto-
Manguean, n=118; Totozoquean, n=47; Uto-Aztecan, n=74) that coexisted during the Aztec empire. All samples were subjected to high-resolution
genotyping using 19 Y-STR and 21 SNPs. The resulting data and those from published studies were analyzed using descriptive statistics,
phylogenetic analysis, and demographic reconstructions.
Results. All populations exhibited high frequencies of indigenous founding lineages (Q-MEH2, QL54, and Q-M3) that trace their ancestral origins
to South-Central and North-East Siberia3. Of these, Uto-Aztecans (Aztec descendants) showed the greatest haplogroup diversity (Q-MEH2, 3.2%;
Q-L54, 11.3%; Q-M3, 85.5%) compared to Oto-Manguean (Q-M3, 80%; Q-L54, 20%) and Totozoquean (Q-M3, 74%; Q-L54, 26%) groups. SNP
genotyping revealed Q-L54 to be primarily composed of Q-Z777 and Q-PV3 sublineages, and Q-M3 by Q-Z768 and Q-L663 sublineages.
Phylogenetic analysis of Q-L54 and Q-M3 STR haplotypes revealed complex networks with long branches, multiple reticulations and missing
intermediate nodes, and hinted at the existence of as yet undescribed subclades. Coalescence analysis produced a TMRCA for Q-Z777 of 13.5
kya and Q-Z768 of 15 kya, dates nearly as old as those for founder haplogroups Q-L54 and Q-M3, indicating their emergence and diversification
soon after the arrival of founder populations in Mexico. In addition, we observed remarkable haplotypic diversity in the study populations.
Interestingly, this diversity was not clearly structured by ethnicity or language affiliation, although populations from the three linguistic families also
did not share any haplotypes between them. This extraordinary genetic diversity may reflect the antiquity of the languages and cultures of the VM1,
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and potentially admixture between different indigenous groups (Oto-Manguean, Totozoquean, Huastecan, Uto-Aztecan speakers) over thousands
of years, leading to the Mesoamerican multiculturality observed today2. These patterns of genetic diversity in VM may also have been affected by
expanding Aztec and Otomi populations, and perhaps different demographic events, as well.
Conclusions. Our findings will help to elucidate the number of founding lineages, the timing of ancestral population expansions in Mexico, and the
number of migrations that contributed to the peopling of the Americas. They also point to the multicultural origin of the Aztecs and their living Nahua
descendants, and coexisting ethnic groups in Mexico, and reveal the diversity in the founding lineages of the first Americans. This study further
enlarges our understanding of the genetic history of Mesoamerica.
Acknowledgements. This project was funded by CONACYT (Project 178239; RG), the National Geographic Society (TGS), and the University of
Pennsylvania (TGS).
References 1. Nichols DL, Rodríguez-Alegría E. 2017. The Oxford Handbook of the Aztecs. New York: Oxford University Press.
2. Duverger C. 2007. El Primer Mestizaje. La clave para entender el pasado Mesoamericano. Ciudad de México, México: Editorial Taurus.
3. Dulik MC et al. 2012. Y-chromosome analysis reveals genetic divergence and new founding native lineages in Athapaskan and Eskimoan-speaking populations. Proc Natl Acad Sci
USA 109(22): 8471-8476.
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Oral Presentation
Dr. King Jordan
GEORGIA INSTITUTE OF TECHNOLOGY, USA
GENETIC ANCESTRY AND HEALTH DISPARITIES IN LATIN AMERICA: THE CURIOUS CASE OF
TYPE 2 DIABETES IN COLOMBIA
Differences in genetic ancestry and socioeconomic status (SES) among Latin American populations have been linked to health disparities for a
number of common complex diseases, such as diabetes. We used a population genomic approach to investigate the role that genetic ancestry and
socioeconomic status (SES) play in the epidemiology of type 2 diabetes (T2D) for two diverse Colombian populations: Chocó and Antioquia.
Genome-wide patterns of genetic ancestry and admixture for Chocó and Antioquia were compared to six other admixed American populations.
Chocó shows mostly African genetic ancestry (76%) with a nearly even split between European (13%) and Native American (11%) fractions,
whereas Antioquia has primarily European ancestry (75%), followed by Native American (18%) and African (7%). We computed T2D genetic risk
scores for Chocó and Antioquia by evaluating the population-specific distributions of known risk alleles for 165 single nucleotide polymorphisms
(SNPs) mined from a collection of 29 T2D genome-wide association studies (GWAS). Chocó was found to have significantly higher predicted
genetic risk for T2D compared to Antioquia, and the elevated genetic risk for T2D in Chocó was correlated with higher African ancestry. Despite its
elevated genetic risk, the population of Chocó has a three-times lower observed T2D prevalence than Antioquia, indicating that environmental
factors better explain differences in T2D outcomes for the two populations. Nevertheless, Chocó has substantially lower SES than Antioquia, which
is unexpected given the fact that low SES is widely considered to be an environmental risk factor for T2D. This suggests that low SES in Chocó
serves as a protective factor against T2D, opposite to what has been reported in numerous previous studies. Our exploration of the dietary and
lifestyle factors that characterize low SES in Chocó illustrates how poverty can divergently manifest as a T2D protective factor in developing
countries such as Colombia.
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Oral Presentation
Dr. Lorena Madrigal
UNIVERSITY OF SOUTH OF FLORIDA, USA
NATURAL SELECTION CHOSE IT, MIGRATION BROUGHT IT, AND FOOTBALL AFFECTS ITS EXPRESSION:
HOW SICKLE CELL TRAIT IS DIFFERENTIALLY MANIFESTED IN A SMALL SAMPLE OF FOOTBALL PLAYERS C. Flansburg, 1† C. M. Balentine, 2† R. W. Grieger,3 J. Lund,4 M. Ciambella,4, D. White,6 E. Coris,5 E. Gonzalez,5, A. C. Stone,4 L. Madrigal.*6.
Key words: Sickle cell trait, football
Introduction. Sickle cell trait has been known to be associated with increased risk of death in sports (Eichner 2014; Harmon, et al. 2012; Nelson,
et al. 2016). Focusing on National Collegiate Athletic Association football athletes, Harmon et al. (2013) concluded that Division I football players
with sickle cell trait (SCT) had a risk of death 37 times higher than players who did not have SCT. Not all football players with SCT suffer from
clinical complaints or die; indeed, some have successful careers on professional teams. The question becomes, what causes an individual with
SCT to be at an increased risk of exercise-induced complications while another exhibits no symptomology? The purpose of this study is to determine
if genetic modifiers previously shown to affect HbF levels and phenotypic variance among SCA patients are associated with variable symptomology
in a small sample of collegiate football players with SCT.
Methods. We worked with current football players diagnosed with SCT from blood tests, whose symptoms were self-assessed, and whose
symptom severity was arranged in a scale of severity by two separate clinicians who were blind to the study’s objectives. Participants were also
sent a cotton cheek swab for DNA sample collection, which were mailed to the Stone Lab at Arizona State University. The specific SNPs tested
were rs7482144 and rs10128556 at the beta-globin gene cluster, rs10189857 and rs4671393 at BCL11A, and rs9402686 at the HBS1L-MYB
intergenic region.
Results. For rs10189857, the number of heterozygotes (AG=18) exceeded that of the ancestral-type homozygotes (AA=14), and no derived GG
homozygotes were observed. We found that two symptoms were significantly associated with genetic variation at the SNPs analyzed. We also
constructed a regression equation model, which accurately predicts the risk-scale categories into which participants were placed by our clinicians
based on a review of the participant’s symptoms. The model included the participant’s rs10189857, which was unknown to the clinicians.
Conclusions. This is a pilot study based on a small sample size. However, we have demonstrated in sickle cell trait participants, presence of
genetic diversity previously known to affect the clinical outcome of sickle cell anemic individuals. We have also shown that this genetic diversity is
significantly associated with clinical symptoms.
Acknowledgements. Project funded by an NCAA graduate student research grant award, given to CF while at USF.
References Eichner, E. R. 2014 Sickle Cell Trait and Safe Athletic Participation: The Way Forward Response. Current Sports Medicine Reports 13(3):194-194.
Harmon, K. G., et al. 2012 Sickle cell trait associated with a RR of death of 37 times in national collegiate athletic association football athletes: a database with 2 million athlete-years
as the denominator. British Journal of Sports Medicine 46(5):325-330.
Nelson, D. A., et al. 2016 Sickle Cell Trait, Rhabdomyolysis, and Mortality among US Army Soldiers. New England Journal of Medicine 375(5):435-442.
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Oral Presentation
Dr. Kiran Jayaram
UNIVERSITY OF SOUTH OF FLORIDA
LEARNING THE WORLD, LEARNING THE WHIRLED: ETHNOGRAPHIC METHODS OF URBAN MOBILITY
This paper proposes a methodological approach for anthropological studies of mobility that puts primacy on learning as the processual counterpart
to culture. In short, studying people in motion to and in an urban area requires paying attention to how they learn to move.
Though most people on the planet have not crossed international borders, contemporary discourse portrays a mass of people whirling from country
to country and from countryside to city. This paper engages three main bodies of scholarship. Firstly, it builds upon the research on urban areas
(Du Bois 1899; Park 1915; Wirth 1938) and on the role of cities in contemporary processes (Hannerz 1980; Harvey 1973; Pottier 1988; Sassen
2001). Secondly, anthropological studies of mobility have focused on the “complex assemblage of movement, imaginaries, and experience”
(Salazar 2016). In a sense, these realms of the world mirror the material world, beliefs, and behaviors of a population as fundamental elements of
culture. However, anthropological studies of mobility have often overlooked the processual part of culture: learning. Drawing upon educational
anthropology, I propose that any ethnography of mobility should take into consideration how people learn to be mobile in the city.
This paper will draw upon my research among contemporary Haitian educational and labor migrants to Santo Domingo, the capital of the Dominican
Republic. I begin by presenting some of the elements of the regime of mobility (Glick Schiller and Salazar 2011) with which migrants must contend.
Next, I describe some of the knowledge that some of them use on the way to and within the city. After examining these ethnographic examples, I
point to their limitations as a way to propose ways to study urbanites. I suggest how studying the process of learning can reveal information about
people’s culture.
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Oral Presentation
Dr. James Loucky
WESTERN WASHINGTON UNIVERSITY
LEGITIMACY AND RIGHTS OF MOVEMENT ON AN IMPERILED PLANET: LEGACIES AND LESSONS LINKING
CENTRAL AND NORTH AMERICA
Introduction. Little is more inherently human, or as complex and contentious, as movement. Today the scope of mass migration and its
associations with unprecedented inequalities, concentrations of power, and vast biosystemic degradation have compounded long legacies of
domination and nativism to produce a morality of migration as one of problems and disruptions. Rights perspectives are drowned out, as are the
voices of those with most at stake and some of the most to offer: people on the move. This presentation highlights the ubiquity, inevitability, and
largely beneficent nature of migration, drawing on notable lineages of anthropological research into asymmetries, dependencies, and corresponding
movements linking Central America, Mexico, and North America. It centers on the lived experiences of Maya people who, in little more than four
decades, have extended beyond Mesoamerican highland communities to destinations across much of the continent. Both ecocultural determinants
and intergenerational dynamics and justice considerations emerge as essential directions for shaping more sensible and humane policies and
practice in the years ahead.
Methods. Ethnographic and comparative research into the migration of people of Maya heritage, and building collaborative community partnerships
with them, have become central to my career in anthropology. Beginning with research into the harsh exodus during the 1980s, and extending to
the challenges of maintaining transcultural connectedness in an increasingly gated world today, I examine developing networks and creative new
framings that span borders of many kinds, including those that are geographic, rural and metropolitan, linguistic, and disciplinary. Implications for
kinship and life-trajectories, as well as movements themselves, reveal resilience and the decisive nature of culture as both ethical and empirical
concerns.
Results. As people fleeing structural violence, civil breakdown, and environmental chaos challenge popular perspectives about migration, effective
policies increasingly become contestations between control and new avenues to belonging. The political economy of Mesoamerican migration
reveals egregious developments, including exclusionary rhetoric and criminalization. But equally important are the significant contributions made
by people as they move and resettle. Alternatives to “deservedness” decrees and dominance regimes include recognizing resources and realities
of movement as a kind of commons, how refugee flows function as refugia, and sanctuary as emblematic of intercultural solidarity.
Conclusions. The migration of humanity reveals the humanity of migration, as one of resilience and creativities through which people on the move
co-determine destinies as well as destinations. Together these represent humanity’s best chance at lessening the harms ahead, amid the
confluence of migration and planetary changes.
Acknowledgements. Roberto Alvarez, Barry Bogin, Michael Kearney, Joan Stevenson.
References Casteñeda, Jorge. 2007. Ex Mex: From Migrants to Immigrants. The New Press.
Ho, Christine G.T., and James Loucky. 2012. Humane Migration: Establishing Legitimacy and Rights for Displaced People. Lynne Rienner.
Velez-Ibañez, Carlos G., and Josiah Heyman. 2017. The U.S.-Mexico Transborder Region: Cultural Dynamics and Historical Interactions. Univ of Arizona Press.
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Oral Presentation
Dr. Majid Hannoum
UNIVERSITY OF KANSAS, USA
ZONE OF “ILLEGALITY:” WEST AFRICAN MIGRATION IN TANGIER
Taking Tangier as an ethnographic site, this article looks at Sub-Saharan African migrants to Morocco, and to Tangier where preparations for
crossing to Spain takes place. The article examines the trajectory of the migrants, their status as “illegal” new comers in the city, and the rational
that justifies their activity deemed illegal by the EU and by Morocco, but considered legitimate by the migrants. The article also discusses the new
form of “illegality” that has transformed Morocco not only as a country of migration, but also a nation-state of a special form of “illegal” migration—
a transit one. The migrant in Tangier is a transnational and transitional being, and it is his condition of transit transnational “illegality” that the article
also discusses. It does so, by focusing on the dynamics of “racial difference” in a self-identified “white” city, and exploring the everyday of cultural
violence the migrants are subjected.
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Oral Presentation
Dr. Bartholomew Dean
UNIVERSITY OF KANSAS, USA
MUSEO REGIONAL-UNIVERSIDAD DE SAN MARTÍN, PERU
YURIMAGUAS AND THE LOWER HUALLAGA RIVER VALLEY: A BIOCULTURAL APPROACH TO DISRUPTIVE
PATTERNS OF MIGRATION & URBANIZATION IN PERUVIAN AMAZONIA
Bartholomew Dean (University of Kansas & Museo Regional-Universidad Nacional de San Martín, Peru) & Randy David (University of Kansas)
In a decidedly anti-enlightenment turn, the point of departure of this paper follows a line of scholarship contesting the notion that humans are
universally driven to fashion increasingly more efficient, ‘productive’ technologies. As argued here, the technological developments facilitating
human migration in Peruvian Amazonia’s Huallaga Valley--be they steam navigation, automobiles, or the recent completions of both a transandean
all-weather road (IRSA Norte) and international river port--have been associated with a ‘zero-sum game’ involving uneven global resource flow and
radical transformations in human mobility. The biological implications of human migration are diverse and extensive, increasing genetic diversity
and admixture measures in the region, and in the process forever altering the genetic composition of the peoples of the Huallaga Valley. Despite
being one of the richest areas of biodiversity on the planet, Peru faces one of the highest rates of deforestation of any Amazonian nation. Much of
this deforestation has been associated with spontaneous colonization accompanying rapid urbanization coming on the heels of unregulated
resource extraction and further integration into global, neoliberal markets. This has resulted in wealthier parts of the world prospering at the expense
of humans and environments in poorer regions of the globe, especially lowland South America. It is in this sense that we assert recent that patterns
of migration in Peruvian Amazonia--as demonstrated in Yurimaguas and the Lower Huallaga River Valley--are best characterized as being
disruptive.
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Oral Presentation
MSc. Farnaz Khatibi Jafari
UNIVERSITY OF TOKIO, JAPAN
A MULTI-ISOTOPIC APPROACH TO THE RECONSTRUCTION OF PREHISTORIC MOBILITY AND
BURIAL PATTERNS IN THE IRANIAN PLATEAU DURING BRONZE AGE
The city of Kabnak (modern Haft Tape) as an important political center, was developed during the reign of Kidnuid dynasty in the 15th century BC,
which was destructed by the Kassite king lead to changing of the political center. We investigate the identity of Kabnak citizens from a mass burial,
as they were assigned to the final phase of in this city, and the possibility of migration from the far region (i.e. Indus Valley) and surrounding area
(Mesopotamia, Gulf Coast) is the aim of this study.
Biological relatedness in mass burial was examined using isotopic analysis. Additional samples, from other sites of the same period was analyzed
for better assessing biological variation within the mass burial. Strontium isotopes (87Sr/86Sr) and δ18O in carbonate measured in the same several
enamel samples from mass burial and modern biological samples to estimate their original provenance.
Isotopic analysis proves that majority of 87Sr/86Sr are very homogenous, while only a few cases (including an infant) were entirely different from the
other samples. Oxygen analysis also showed the majority of examined samples are homogenous except some outliers that have clearly
higher/lower values in comparison the local range.
The origin of the mass burial and the cause of their sudden death are still unclear. Some might say the immigrants moved to Elamite sites, were
from Mesopotamia and/or Indus Valley cities, which promoted the long-distance trading to these regions and they were semi-nomad merchants
from one territory to another.
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Oral Presentation
B. Juan Esteban Rodríguez-Rodríguez
LANGEBIO-CINVESTAV, MEXICO
RECONSTRUCTING ADMIXTURE AND MIGRATION DYNAMICS OF POST-COLUMBIAN MEXICO
Mexico has considerable population substructure due to historical events and different amounts of admixture between diverse human groups,
predominately Native Americans, Europeans, Sub-Saharan Africans and, to a lesser extent, East Asians. Using genome-wide SNP array data from
indigenous and admixed Mexican populations, we explored the ancestry tract length distribution from 7 different states across Mexico to infer the
timing of admixture in each region, as well as the number of migratory pulses. We observed older admixture timings in the earliest colonial cities,
in agreement with historical records. Moreover, we show for the first time a second pulse of combined European/Native American origin in the
states of Guanajuato and Guerrero. In the other hand, we identified some individuals from Guerrero with more than 5% of Asian ancestry. To trace
the origin of this understudied heritage, we compared the Asian-derived Mexican haplotypes with a reference panel of Southeast and East Asian
populations. These individuals, particularly from the Pacific Coastal port of Acapulco, clustered with Indonesian and non-Negrito Filipino
populations, suggesting a historical genetic record from the Manila Galleon trade between Philippines and Mexico.
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Oral Presentation
MSc. María Teresa Navarro-Romero
CINVESTAV-IPN, MEXICO
GENETIC ORIGIN OF PREHISPANIC HUMAN REMAINS FROM PUXCATAN TACOTALPA, TABASCO, MEXICO
THROUGH MITOCHONDRIAL DNA SEQUENCING
María Teresa Navarro-Romero1, María de Lourdes Muñoz1, Ben Krause-Kyora2, Carlos Serrano-Sánchez3, Albero Martos4, Luis Enrique Alcalá-
Castañeda5, Marcel Nutsua2 & Lisa Böhme2 1Center for Research and Advanced Studies of the National Polytechnic Institute, Mexico City, Mexico; 2 Institute of Clinical Molecular Biology, Christian-Albrechts-
University, Kiel, Germany; 3Anthropological Research Institute, National Autonomous University of Mexico, Mexico City, Mexico; 4National Institute of Anthropology,
Mexico City, Mexico and 5Templo Mayor Museum-INAH, Mexico City, Mexico.
Key words: mtDNA, aDNA, NGS & HVR-I
Introduction. Mesoamerica was a region in America continent where inhabited multiple culture, it has been divided into three principal periods,
Preclassic, Classic and Postclassic. It has been suggested that the first culture settled in Mesoamerica was the Olmec which lived along the Gulf
of Mexico during the Preclassic period lasted approximately 1000 years. After their splendor, they aparently disappeared, perhaps due to the
constant invasions or migrations that originated other groups, like the Zoque and Maya civilization. Archaeological evidence suggests that Zoque
and Maya pre-Hispanic cultures were direct descendant of Olmecs when they migrated to Chiapas, Oaxaca and Tabasco, nevertheless, the
knowledge of its origin is very limited. In 2007, several ancient remains were found in the region of Puxcatan-Tacotalpa, Tabasco, Mexico without
knowing their temporality, ethnic origin or whether they belong to one or different events across time. Consequently, the objective of this study was
to reveal the maternal human lineage and origin of this individuals through mitochondrial DNA sequencing.
Methods. To contribute to the knowledge of this human remains were study the maternal genetic origin through the analysis of the Hypervariable
Region I of Mitochondrial DNA (mtDNA) and its relationship with other populations to rebuild genotype characteristics of their demography by using
the new technology called Next Generation Sequencing (NGS).
Results. Analysis of all sequences allowed us to identify the variation and distribution of haplogroup and haplotype frequency, and to compare
ancient and modern populations using haplotype ancestry network analysis to understand their correlation with other native populations and give
support of migratory movement.
Conclusions. The ancient remains displayed haplogroups A, C and D and showed their migratory movement in the American continent as well as
their probable ethnic origin.
Acknowledgements. CINVESTAV-IPN & CONACYT
References 1. González-Martín, A., A. Gorostiza, L. Regalado-Liu, S. Arroyo-Peña, S. Tirado, I. Nuño-Arana, R. Rubi-Castellanos, K. Sandoval, M. D. Coble, and H. Rangel-Villalobos. 2015. “Demographic History of Indigenous Populations in
Mesoamerica Based on mtDNA Sequence Data.” PloS One, 10 (8).
2. Skoglund, P., S. Mallick, M. C. Bortolini, N. Chennagiri, T. Hünemeier, M. L. Petzl-Erler, F. M. Salzano, N. Patterson, and D. Reich. 2015. “Genetic Evidence for Two Founding Populations of the Americas.” Nature, 525 (7567).
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Oral Presentation
MSc. Ashael Alfredo Pérez-Muñoz
CINVESTAV-IPN, MEXICO
BRCA1/2 DISTRIBUTION IN HUMAN POPULATION WORLDWIDE
Perez-Muñoz AA1,2; Garcia-Hernandez N2; Muñoz ML1
1 Department of Genetics and Molecular Biology, CINVESTAV-IPN; 2 UIMG National Medical Center 21st Century, IMSS
BRCA1 and BRCA2 are human genes that produce tumour suppressor proteins. These proteins help to repair the DNA damaged and, therefore,
play a role in ensuring the stability of the cell’s genetic material. When either of these genes is mutated, or altered, such that its protein product
either is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional
genetic alterations that can lead to cancer.
Specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancers, and they have been associated with
increased risks of several additional types of cancer. Together, BRCA1 and BRCA2 mutations account for about 20 to 25 percent of hereditary
breast cancers and about 5 to 10 percent of all breast cancers.
There are evidences BRCA1 and BRCA2 mutations are more common in some racial or ethnic populations. For example, people of Ashkenazi
Jewish descent have a higher prevalence of harmful BRCA1 and BRCA2 mutations. Other ethnic and geographic populations around the world,
such as the Norwegian, Dutch, and Icelandic peoples, also have a higher prevalence of specific harmful BRCA1 and BRCA2 mutations. Limited
data indicate that the prevalence of specific harmful BRCA1 and BRCA2 mutations may vary among individual from different continents and ethnic
groups, including African-Americans, Hispanics, Asian-Americans, and non-Hispanic whites.
Knowing how these populations have migrated and with what other operations have been mixed can help to understand the segregation of these
genes and their mutations around the world.
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Oral Presentation
MSc. Angelica Saldaña-Martínez
CINVESTAV-IPN, MEXICO
WORLDWIDE MITOCHONDRIAL DNA DISEASES AND A HYPOTHESIS ON MIGRATION
Angelica Saldaña-Martínez1, J. Francisco Montiel-Sosa2, María de Lourdes Muñoz 1
1. Departamento de Genética y Biología molecular, CINVESTAV, Mexico City, Mexico. 2. Department of Biological Sciences. Facultad de Estudios Superiores
Cuautitlán. UNAM, Mexico
Key words: mtDNA, mitochondrial diseases, haplogroup, human migration
Introduction. Mitochondrial diseases are a group of complex disorders with clinic heterogeneity and multisystem impairment. They are produced
by oxidative phosphorylation failure, which is the final route of mitochondrial energetic metabolism to generate ATP. The grade of heteroplasmy
and the threshold are determining factors for disease severity. On the other hand, some mitochondrial DNA mutations can cause diseases or clinic
phenotypes by themselves, but others require the presence of an additional factor that could be a population variation or ethnic difference either in
nuclear or mitochondrial genetic background, such as the mitochondrial haplogroup. In order to know the haplogroup influence in the mitochondrial
diseases and their origin, we traced a route of its localization around the world for a better understanding of its etiology.
Methods. Literature screening for disease-haplogroup reports around the world. Exclusion of reports with population, haplogroup or disease not
specified. Data collection of population, location, mitochondrial disease diagnosed and haplogroup determined and reports with patients sequences
specified are also required for a phylogenetic analysis.
Results. There are many reports that associate a specific haplogroup in a cohort study but they do not report sequences of patients which could
be suitable for their origin drew. However, we did not find the specific origin of a particular mitochondrial disease and continue the analysis of many
reports around the world hoping to reveal it. Furthermore, the mitochondrial diseases have clinic heterogeneity and some symptoms overlap among
syndromes therefore it is important to determine the region-specific variations, such as the haplogroup and the haplotype that could be risk factors
of a pathogenic condition.
Conclusions. In human evolution and adaptation processes take place mitochondrial variations, some of them are fixed along the time and others
are lost, while some of them can severely affect the ATP production generating a disease. Hence, it is difficult to determine the origin of
mitochondrial diseases. However, it is necessary more studies in this topic to unveil it.
References - Wallace DC and Chalkia D. Mitochondrial DNA Genetics and the Heteroplasmy Conundrum in Evolution and Disease. Cold Spring Harb Perspect Biol. 2013;5:a021220
- Kivisild T. Maternal ancestry and population history from whole mitochondrial genomes. Investigative Genetics. 2015. 6:3 DOI 10.1186/s13323-015-0022-2
- Guha P, Srivastava SK, Bhattacharjee S, Chaudhuri TK. Human migration, diversity and disease association: a convergent role of established and emerging DNA markers.
Front Genet. 2013. Aug 9;4:155. doi: 10.3389/fgene.2013.00155. eCollection 2013.
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63
Poster
Dr. María A. Nieves-Colón
ARIZONA STATE UNIVERSITY, USA
CINVESTAV-LANGEBIO, MEXICO
ANCIENT DNA EVIDENCE FOR THE PEOPLING OF PUERTO RICO
Maria A. Nieves-Colón12, William J. Pestle3, Kathleen Fowler1, Katherine Skerry1, Edwin Crespo-Torres4, Carlos D. Bustamante5 and Anne C.
Stone1
1School of Human Evolution and Social Change, Arizona State University, Tempe, AZ 2Laboratorio de Genómica para la Biodiversidad, Unidad de Genómica Avanzada CINVESTAV, Irapuato, Guanajuato, MX 3Department of Anthropology, University of Miami, Coral Gables, FL 4Forensic Anthropology and Bioarchaeology Laboratory, University of Puerto Rico, Rio Piedras, PR 5Department of Genetics, Stanford University, Stanford, CA
Key words: Ancient DNA, Puerto Rico, Caribbean, mitochondrial DNA
Introduction: Native American populations exclusively occupied the island of Puerto Rico from 4,000 years before present, until European
colonization. Due to the demographic shifts that occurred after European contact, the origins of these populations and the extent to which they
contributed to the genetic ancestry of present-day, admixed Puerto Ricans is still unclear.
Methods: Here we use ancient DNA (aDNA) to characterize the genetic diversity of pre-contact communities from Puerto Rico and examine their
relationship to present-day islanders. We used in-solution capture and next-generation sequencing to isolate aDNA from 60 human skeletal remains
(A.D. 500–1300), from three archaeological sites: Tibes, Paso del Indio and Punta Candelero.
Results: Complete mitochondrial genomes were obtained from 27 of 60 individuals (mean read depth: 18.9x). In this sample, there is a high
proportion of Native American haplogroups A2 and C1 (29% and 55%, respectively). This distribution, as well as the haplotypes represented,
supports a primarily South American origin for pre-contact populations, but does not exclude possible contributions from other regions. In addition,
we found two identical mtDNA haplotypes shared exclusively between pre and post contact Puerto Rican populations.
Conclusions: Our findings critically reassess archaeological models for the peopling of Puerto Rico and the Caribbean and demonstrate some
genetic continuity between ancient populations and present-day islanders. Because Native American ancestry is a central part of national and
ethnic identity in Puerto Rico, our results have the potential to impact academic and public discourses on the role of indigenous heritage in modern
Puerto Rican culture.
Acknowledgements: Funding for this project was provided by the National Science Foundation, the Rust Family Foundation, Sigma Xi, and the
ASU School of Human Evolution and Social Change.
I. HUMAN GENETIC HISTORY
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References Rouse, I. 1992. The Tainos: Rise & decline of the people who greeted Columbus: Yale University Press.
Maricic, T., M. Whitten, and S. Paabo. 2010. "Multiplexed DNA sequence capture of mitochondrial genomes using PCR products." PLoS One 5 (11):e14004.
Martínez-Cruzado, J. C. 2010. "The History of Amerindian mitochondrial DNA lineages in Puerto Rico." In Island shores, distant pasts: Archaeological and biological approaches to the
Pre-Columbian settlement of the Caribbean, edited by S. Fitzpatrick and A. Ross, 54-80. Gainesville: University Press of Florida
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65
Poster
MSc. Randy David
UNIVERSITY OF KANSAS, USA
GENETIC STRATIFICATION IN AN AMAZONIAN POPULATION WITH A HISTORY OF IMMIGRATION
The City of Yurimaguas, Peru is strategically located at the confluence of the Shanusi, Paranapura, and Huallaga Rivers, due east of the Andes-
Amazon divide. The Huallaga Valley in which Yurimaguas is located has a rich history of commerce, communication, and transportation dating
back to the Pre-Columbian era. Spanish colonization and extractive industry introduced Yurimaguas to international immigration from Europe, Sub-
Saharan Africa, and East Asia. With the recent construction of a new interstate highway and river port, Yurimaguas has largely supplanted cities
further east, such as Iquitos, as a key location for a growing trade in Amazonian products crossing lowland South America. The recent boom in
industry has stimulated migration into the region at unprecedented rates. Yurimaguas represents the opportunity to study genetic stratification in a
unique population, characterized by widespread historic and modern immigration.
I. HUMAN GENETIC HISTORY
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66
Poster
B. Miguel Moreno-Galeana
CINVESTAV-IPN, MEXICO
GENETIC ANALYSIS OF PRECERAMIC POPULATIONS 1Miguel Moreno-Galeana, 2Adrián Martínez-Meza, 2Miguel C. Botella, 1María de Lourdes Muñoz
1Departement of Genetics and Molecular Biology, Centro de Investigación y de Estudios Avanzados del IPN & 2Instituto Nacional de Antropología e Historia
Introduction. Bone remains are the best preserved in archaeological sites, they have been useful for genetic studies, since DNA can be extracted
from them. This has allowed to make studies about the human evolution, migration and diseases (Hagelberg and Clegg 1991). Mexico has played
a very important role in this regard, because in Mexican territory where it has been found several human ancient remains approximately with 5000
to 12500 years old (Gonzales et al, 2003), which have been relation into the first migration of America.
Anthropologist and ancient DNA studies have contributed to clarifying the phylogenetic relationships between another ancient and contemporary
population, as well as their possible origin and their geographical distribution.
Methods. The material used for this study is composed of bone fragments and is the collection of preceramic specimens, it is important to mention
that some have a state of mineralization; only osteological analyses have been performed, such as the determination of their age by 14C or
stratigraphic location, or sex. DNA was obtained by the protocol described by Rohland and Hofreiter in 2007 and the mitochondrial DNA
hypervariable region was amplified by specific primers and sequenced.
Results. The amplification of 10 preceramic samples has been achieved, as well as the characterization of their haplogroup by restriction enzymes
and sequencing of the hypervariable variate region I.
I. HUMAN GENETIC HISTORY
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67
Poster
Dr. James Yanhe Huang
CHEM. SERVICE INC.
MEXICO: THE CRADLE OF PAN-AMERICAN NATIVES
Key words: Third human migration way, monsoon passive drift, genome sequencing technology for human history research, Maya, Indian, Mexico
At present, it was recognized that in glacial times Mongols went through Bering Strait to Alaska for hunting large animals, following the western
coastline the new comer settled down in the North America, Central American, Caribbean and South America. This hypothesis was supported by
the genetic link between American Indian and residents in Mongolia area.
But there are many mysteries about the Americas Indians and Maya. Mayan was a small part of American Indian and lived in small area Central
American, but was the only tribes with written record in whole America area.
Central and South America Indians had established the two main Empires (Azikete and Inca) and Great Maya civilization, North American Indians
seemed to have been in a fragmented state.
Why? And Azikete Empires and the Maya civilization happened in ancient Mexico area. Although in the Neolithic age, the Maya civilization had
created great achievement in astronomy, mathematics, agriculture, art and writing characters. Obviously, Mexico was the center of Indian
civilization.
After investigation through the history, genome sequencing technology for human history research and related geography documents, a fully new
conclusion was proposed: Because of specialty of Central American and Caribbean area, the ancient Mongols of Eastern Asian in fishing were
directly drafted by the force of Monsoon passively through Pacific Ocean to Mexico area with extremely high mortality rate and settled down.
Afterward, the settled people developed Mayan civilization, and founded Azikete Empire. Also migrated to North America, Caribbean and South
America. In South America Inca was founded. In Caribbean, these people were found and named as Indian by Columbus.
Therefore, Mexico was called as The Cradle and center of Pan-American Natives.
II. MIGRATION THROUGH THE TIME
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Poster
Dr. Sara D. Alden
UNIVERSITY OF KANSAS, USA
GENETIC STRUCTURE OF IRAQI POPULATION FROM SIX CITIES BASED ON 15 STRS
Sarah D. Alden1, Majeed Arsheed Sabbah2, Mohammed Mahdi Al-Zubaidi2, Haider K. Alrubai2, Dhuha Salim Namaa2, Thoalnoon Younis Saliha2,
Basim Muften3, Hala Khalid Ibrahem2, Salba Jaber Al-Awadi2, Adnan Issa Al-Badran2, and Michael H. Crawford1
1Laboratories of Biological Anthropology, University of Kansas, USA 2Forensic DNA Center for Research and Training, Al-Nahrain University, Iraq 3Ministry of Interior, Iraq
15 STRs were sequenced for 1061 individuals from six cities within Iraq and these data were used to explore the genetic structure of Iraq. The
samples were collected by buccal swabs taken from patients and laboratory workers at private laboratories in the cities of Diyala, Anbar, Basra,
Baghdad, Najaf, and Wasit. Samples were amplified at Al-Nahrain University in Baghdad, Iraq using AmpFℓSTR® Identifiler® kit and typed using
an ABI PRISM® 3130XL Genetic Analyzer. Cluster analysis performed with R package “adegenet” inferred 8 genetic clusters. A 𝜒2 test found that
genetic clusters were not independent of city assignation (p = 0.008) and the DAPC function was able to correctly assign individuals to their city
48.7% of the time with 120 PCs retained. However, the DAPC plot by city was not as dispersed as the DAPC plot by genetic cluster. There is
genetic diversity in Iraq from migrations into the region. Primary genetic differentiation is between genetic clusters which may represent different
ethnic and/or religious backgrounds, and then a secondary stratification exists among regions which supports a hypothesis of small movements of
people within the country.
II. MIGRATION THROUGH THE TIME
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Poster
Dr. Mirna Isabel Ochoa-Lugo
INSTITUTO TECNOLOGICO DE TIJUANA, MEXICO
STUDY OF MATERNAL LINEAGE AND MITOCHONDRIAL GENETIC DIVERSITY OF THE PREHISPANIC MAYAN
POPULATIONS OF THE PALENQUE ARCHAEOLOGICAL SITES IN CHIAPAS AND EL REY IN QUINTANA ROO
Mirna Isabel Ochoa Lugo1, Gerardo Pérez Ramírez1, Javiera Cervini-Silva2, Miguel Moreno Galeana1, Eduardo Ramos3, Arturo Romano-
Pacheco4,5, María de Lourdes Muñoz1,2
1Department of Genetics and Molecular Biology, Center for Research and Advanced Studies of IPN, D.F., Mexico; 2Universidad Autónoma Metropolitana Unidad
Cuajimalpa; 3Earth Sciences Division, Lawrence Berkeley National Laboratory; 4Department of Physical Anthropology, Instituto Nacional de Antropología e Historia
(INAH), México; 5Universidad del Claustro de Sor Juana
Key words: pre-hispanic populations, ancient dna, mitochondrial dna, indigenous people, mesoamerica, america, migration
Mitochondrial DNA has been used to elucidate the maternal evolutionary history of humans. This is due mainly to the characteristics of the
mitochondrial genome as it is: a high number of copies, is of maternal inheritance and has a high mutational rate. Prehispanic samples from
Palenque in Chiapas and El Rey in Quintana Roo, prehispanic samples from Palenque in Chiapas showed frequencies of haplogroups 50% of A2
and 50% of C1; while the prehispanic El Rey samples in Quintana Roo showed frequencies of 25% for haplogroup A, 25% for A2 and 50% for C1.
Haplogroups B and D were not identified in these samples. In particular, the Molecular Variance Analysis (AMOVA) carried out in Mayan prehispanic
populations (El Rey in Quintana Roo and Palenque in Chiapas) and the 1509 NCBI sequences (322 sequences of contemporary Mayan
populations, 22 archaeological sequences in Chile, 142 Of Asia, 88 from Bering, 468 from North America, 103 from Central America and 364 from
South America), showed that most of the HVS-I variation is within populations with 88.3% of variation, the index of fixation (FST) that accounts for
the variation within the populations was 0.1170 and is statistically significant (P <0.00000). The analysis of Multidimensional Scaling showed the
relationship between contemporary Mexican Maya and prehispanic Mayan populations and other contemporary populations (Asia, Beringia, North
America, Central America and South America) using a database of mitochondrial DNA sequences Of the Hipervariable I Region (HVI), the results
showed very short genetic distances between the prehispanic population of Palenque and the populations of: Nahualt de Zitlala, Ciboney de Cuba
in the Caribbean, Chukchi and Esquimo de Beringia and Asiatics of North Asia, While the pre-Hispanic population of El Rey showed shorter
distances with the contemporary populations of Mayas of Campeche, Uruguayans of Uruguay, Dogrib of Canada and Dominicans of the Dominican
Republic. The analysis of Multidimensional Scaling showed the relationship between contemporary Mexican Maya and prehispanic Mayan
populations and other contemporary populations (Asia, Beringia, North America, Central America and South America) using a database of
mitochondrial DNA sequences Of the Hipervariable I Region (HVI), the results showed very short genetic distances between the prehispanic
population of Palenque and the populations of: Nahualt de Zitlala, Ciboney de Cuba in the Caribbean, Chukchi and Esquimo de Beringia and
Asiatics of North Asia, While the pre-Hispanic population of El Rey showed shorter distances with the contemporary populations of Mayas of
Campeche, Uruguayans of Uruguay, Dogrib of Canada and Dominicans of the Dominican Republic. Fs was negative for most populations. These
results suggest rare alleles present at low frequencies or population expansion, after a recent bottleneck. This study also showed that some Native
Americans share ancestry with present-day East Asians including Siberians.
II. MIGRATION THROUGH THE TIME
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70
Poster
MSc. Viridiana Villa-Islas
LABORATORIO INTERNACIONAL DE INVESTIGACIÓN
SOBRE EL GENOMA HUMANO-UNAM, MEXICO
GENOMIC STUDY OF TWO PRE-COLUMBIAN MUMMIES FROM SIERRA TARAHUMARA
V. Villa-Islas1
, C. Valdiosera2
, R.I. Fregel3, A. Sockell3
, M. Jakobsson4
, A. Moreno- Estrada5
, C.D. Bustamante3
, M.C. Ávila-Arcos1
1. International Laboratory for Human Genome Research, UNAM, Queretaro, Mexico
2. Department of Archaeology and History, La Trobe University, Melbourne, Australia.
3. Department of Genetics, Stanford University, Stanford, California, United States of America
4. Department of Evolutionary Biology, Uppsala University, Uppsala, Sweden.
5. Laboratorio Nacional de Genómica para la Biodiversidad (LANGEBIO), CINVESTAV, Irapuato, Guanajuato, Mexico.
Key words: ancient DNA, Whole-Genome-Capture
Introduction. The Tarahumara are an indigenous population also known as Rarámuri, who inhabit the Sierra Tarahumara, mainly in the state of
Chihuahua, Mexico. This millenary group has been recognized for their incredible physical endurance and ability to run long distances. Motivated
by the interest in learning more about their population history, we launched a genomic study of this population combining genomic information from
past and present individuals.
Methods. Here we report the preliminary results obtained from the retrieval and sequencing of ancient DNA (aDNA) from two ca. 900-year-old pre-
Columbian mummies found in a cave in Sierra Tarahumara. To increase the yield of the aDNA libraries we implemented a Whole-Genome Capture
(WGC) approach.
Results. We enriched libraries by a factor of 3.7-7.9 and 2.8, for both samples, respectively, and obtained enough data to cover two-thirds of the
genome for one of the mummies and 1.4% for the second. This allowed us to perform PCA and ADMIXTURE to compare the ancient individuals
with modern Native Mexican groups. These analyses show that one of the mummies clusters with present-day Tarahumaras, while the other
clusters with a geographically distant population.
Conclusions. This result opens up questions of historical and anthropological interest; specifically regarding past genetic structure and migration
between different indigenous groups and demands further and more detailed analyses of the genomic data in a population context.
Acknowledgements. We thank Federico Sánchez-Quinto for data analysis support and Josefina Mansilla, Ilán Leboreiro for providing samples.
Also, the CEHG Trainee Research Grant Program at Stanford University for funding. And to CONACYT for the scholarship 282188.
II. MIGRATION THROUGH THE TIME
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71
References
⒈ Raghavan, M., Steinrücken, M., Harris, K., Schiffels, S., Rasmussen, S., DeGiorgio, M., ... & Eriksson, A. (2015). Genomic evidence for the Pleistocene and recent population
history of Native Americans. Science, 349(6250).
⒉ Carpenter, M. L., Buenrostro, J. D., Valdiosera, C., Schroeder, H., Allentoft, M. E., Sikora, M., ... & Leshtakov, K. (2013). Pulling out the 1%: whole-genome capture for the targeted
enrichment of ancient DNA sequencing libraries. The American Journal of Human Genetics, 93(5), 852-864.
3. Moreno-Estrada, A., Gignoux, C. R., Fernández-López, J. C., Zakharia, F., Sikora, M., Contreras, A. V., ... & Ortiz-Tello, P. (2014). The genetics of Mexico recapitulates Native
American substructure and affects biomedical traits. Science, 344(6189), 1280-1285.
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72
Poster
B. Edgar Pavel Salazar-Fernández
CINVESTAV-LANGEBIO, MEXICO
TRACING THE ORIGIN OF ANCIENT POLYNESIAN HUMAN GENOMES ACROSS THE PACIFIC
Edgar Pavel Salazar-Fernandez* 1, Maria Avila-Arcos2, Erika Hagelberg3, Karla Sandoval1, Mauricio Moraga4, Tom Parks5, Alexander Mentzer5,
Andres Moreno-Estrada1
1National Laboratory of Genomics for Biodiversity, Center for Research and Advanced Studies of the National Polytechnic Institute, Irapuato, 2International
Laboratory for Human Genome Research, National Autonomous University of Mexico, Juriquilla, Mexico, 3Department of Biosciences, University of Oslo, Oslo,
Norway, 4Faculty of Medicine, University of Chile, Santiago, Chile, 5Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
In 2010, mitochondrial DNA extracted from two ancient skulls found in southern Brazil belonged to the haplogroup B4a1a1a, exclusively found in
Polynesia. Radiocarbon analyses indicated that these individuals most probably died before the 19th century, prior to any registered transport of
Polynesian people to South America by European vessels. Further genome-wide analyses showed a complete Polynesian ancestry for both
samples, with Cook Islands as the closest source population. However, scarcity of genotyping data from modern Polynesian populations posed a
major limitation for inferring a more specific place of origin for said skulls. Here, we re-analyze these ancient DNA samples using an extended
reference panel that comprises over 475 genotyped samples from 18 different locations across the Pacific Ocean. With this data we explore the
genetic affinities of the Botocudo skulls at a finer scale to potentially pinpoint their genetic origin, and we demonstrate the importance of assembling
diverse genetic reference panels to shed light on the evolutionary past of human remains devoid of archeological context.
II. MIGRATION THROUGH THE TIME
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73
Poster
MSc. César Armando Brito-Carreón
CINVESTAV-IPN, MEXICO
ENOLASE AS A TARGET PROTEIN FOR THE INHIBITION OF DENGUE INFECTION
IN AEDES AEGYPTI MOSQUITO
Cesar Armando-Brito & María de Lourdes Muñoz
Dengue is an infection caused by Dengue virus (DENV), transmitted by Aedes sp. mosquitoes (Mousson, 2005; Gubler, 2002). It has been
estimated that 390 million DENV infections are produced every year, (Bhatt et al., 2013). To date, there is no 100% effective vaccine against the
four serotypes of DENV (Stephen, 2014). Therefore, efforts to avoid the transmission of DENV are based on the elimination of the vector (WHO,
2009). Our team identified in 2013 that enolase protein as a putative receptor to DENV-2, this protein has been reported as a membrane protein
and plasminogen receptor in different eukaryotic cells.
Therefore, the in silico assay was performed using the TMpred and TopPred programs of the NCBI to determine transmembrane domain of enolase,
which identified a possible transmembrane domain between amino acids 106 to 132, then in silico assay of the interaction between enolase
modeled by I-TASSER program and E protein of DENV-2 (PDB: 1OAN) using the Pathdock program (Schneidman et al., 2005; Muzach et al.,
2008) and the results obtained which predicts polar interactions between the amino acids of the enolase and amino acids Thr 189, ASp 192, Thr
268 and Thr 280 of protein E viral.
Anti-enolase antibodies inhibited infection of DENV-2 in C6/36 cells about 30%, and the localization of enolase in C6/36 cells was observed with
confocal microscopy, where enolase was found in the membrane, cytoplasm and nucleus of these cells, finally the enolase colocalization and
DENV E protein was observed at the periphery of the nucleus at 25 hours of infection with DENV-2 and localized with E protein.
Due to the results obtained, we propose that enolase is a protein required by DENV-2 in mosquito cells, which can be blocked in subsequent
assays to generate a transgenic mosquito deficient of enolase and thus decrease the number of cases of dengue.
III. DISEASES AND MIGRATION
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Poster
MSc. Eduardo Domínguez-De la Cruz
CINVESTAV-IPN, MEXICO
AEDES AEGYPTI IS THE MAINLY RESPONSIBLE FOR THE DISEMINATION OF YELLOW FEVER, DENGUE, ZIKA,
AND CHIKUNGUNYA VIRUSES IN AMERICA
Eduardo Domínguez-de la Cruz & Lourdes Muñoz
Key words: Aedes aegypti, yellow fever, dengue, zika and chikungunya
Migration of Aedes aegypti to America. Aedes aegypti is the mosquito responsible for transmitting many viral human diseases such as yellow
fever, dengue, Zika, and chikungunya. Studies suggest that mosquitoes migrated from West Africa to the New World in the 15th to 17th aboard
slave ships. Alternatively, it is believed that they may have first arrived to Portugal and Spain before reaching the New World. By the end of the
19th and beginning of the 20th century, it was observed a wide distribution of dengue-like disease in countries as far north from U.S and as far south
to Chile and Argentina.
Arrival of yellow fever virus to America. It has been suggested that yellow fever came from West Africa to America with Ae. aegypti infected
with the virus. Before the arrival of Ae. aegypti to America, yellow fever was absent from urban settlements. In 1648 in Yucatan were documented
the first America epidemic, however it is thought to have appeared before in Haiti in 1495. By the 1960s, the mosquito was established from
southern Brazil to Chesapeake in Virginia, U.S. In the 18th century to the present, both Aedes aegypti and yellow fever were reported in summertime
as far north as Quebec, Canada and far south as Buenos Aires, Argentina.
Arrival of dengue virus to America. The presence for all four serotypes in both human and monkeys from Asia and phylogenetic studies, suggests
that dengue has an Asian origin. Like yellow fever, dengue virus was absent before the arrival of Ae. aegypti to America. In the 19th century, were
many outbreaks dengue in port cities of the Caribbean, North, Central, and South America. By the end of the 19th and beginning of the 20th century,
it was observed a wide distribution of dengue-like disease in countries as far north from U.S and as far south to Chile and Argentina.
Arrival of zika virus to America. The zika virus emerged in sub-Sahara Africa, and migrated to Southeast Asia by the mid-20th century and
traveled across the Pacific island at the beginning of the 21st century to reach Brazil in South America in 2014. Later, as a result of the natural
abundance of Ae. aegypti principally, transmission was established in Brazil and subsequently the virus rapidly spread northward affecting
Caribbean island, South America, and Central America, reaching as far north as Mexico.
Arrival of chikungunya virus to America. Chikungunya virus was detected in 1952 in Africa. Later, the global expansion of chikingunya to
countries throughout Asia and Europe was widely propagated by the transfer of infected persons to areas with mosquitoes. Time after, only travel
related were detected in the Western Hemisphere without evidence of local transmission. Actually, due to the wide distribution of Ae. aegypti in
America, the virus spread to other island countries and expansion into mainland areas of South, Central, and North America was inevitable.
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Conclusions. The mosquitoes Aedes aegypti migrated from West Africa to America in the 15th to 17th aboard slave ships. Once that they settle on
the continent, they have been the main vector of yellow fever, dengue, zika, and chikungunya viruses and caused multiple outbreaks throughout
America.
References 1.- Calvez E, Guillaumot L, Millet L., et al. 2016. Genetic Diversity and Phylogeny of Aedes aegypti, the Main Arbovirus Vector in the Pacific. PLoS Negl Trop Dis. 10(1) 1-17.
2.- Jeffrey R Powell and Walter J Tabachnick. 2013. History of domestication and spread of Aedes aegypti - A Review. Mem Inst Oswaldo Cruz, Rio de Janeiro. 108, 11-17
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Poster
Dr. Gerardo Pérez-Ramírez
CINVESTAV-IPN, MEXICO
GLOBAL SPREAD OF THE MOSQUITO AEDES AEGYPTI, A STUDY OF HAPLOTYPE NETWORKS
Gerardo Pérez Ramírez, Álvaro Díaz-Badillo and María de Lourdes Muñoz
The knowledge Human habitat colonization by other species is particularly important like in the case of disease transmitted by mosquito vectors.
Recently, the mosquito Aedes aegypti, is a major vector worldwide by the transmission of several viruses that have generated outbreaks of medical
importance such as dengue, Zika, chikungunya and yellow fever viruses. The Ae. aegypti is probably originated in Africa and migrated to Asia, and
from Asia to America and other continents, and the mosquito evolved and adapted to human environments due to human activities. In order to
establish and understand the spread of this mosquito around the world, collected sequences of 95 haplotypes observed in the mitochondrial DNA,
ND4 gene worldwide. This study includes populations from Africa as well as Asia and America. We identified two distinct genetic clades that indicate
mosquito migration around the world; however, in Africa this does not occur, for example in Cameroon there are haplotypes that are unique,
suggesting their origin from both clades. Brazil presents a greater variability of haplotypes and some haplotypes are closer to the African haplotypes,
maybe this implying that Brazil has high commercial interaction with Africa. It is important to understand the dispersion pattern and the genetic
structure of mosquito populations to develop and design new control strategies in determining appropriate control limits necessary to disrupt
pathogen transmission.
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Poster
MSc. Karla Zavala-Maldonado
CINVESTAV-IPN, MEXICO
TITLE: DETECTION AND COMPARISON OF PROTEINS FROM AEDES AEGYPTI MIDGUT THAT INTERACTS WITH
PROTEIN E AND DIII FROM DENV2 EXPRESSED IN E.COLI AND C6/36 CELLS Karla Zavala-Maldonado, Cesar Armando Brito-Carreón, Rosalinda Tovar, Maria de Lourdes Muñoz.
Key words: Protein E, DIII, DENV2, Aedes aegypti, midgut, receptors
Introduction. DENV2 protein E, through its DIII, binds to different proteins in the membrane of epithelial cells of Aedes aegypti midgut which might
be functioning as virus receptors. At present time, putative receptors for DENV2 has been identified using recombinant protein E expressed in
bacteria but there are no reports of putative receptors in Ae. Aegypti midgut identified using recombinant DIII or E expressed in C6/36 cells.
Methods. Extraction of viral RNA with TRIZOL®; Amplification of protein E and DIII coding sequences with the kit One-step RT-PCR QIAGEN and
specific primers for E and DIII; Cloning PCR products in transition vector PJET1.2 BLUNT; Restriction assays with NdeI, XhoI, EcoRI and HindIII
; Ligation in expression vector PPROEX1 (for E.coli BL21) or PCDNA3 (for C6/36); Sequencing of the inserted fragment with the sequencing
primers; Overexpression of proteins, SDS-PAGE and Western blot; Purification with nickel columns; Affinity columns with E or DIII coupled and
mass spectrometry.
Results. Both sequences (E and DIII) were amplified achieving large amounts of pure cDNA required for the correct cloning in the transition vector,
the fragments needed were restricted, ligated in the expression vector and transformed in E.coli BL21 successfully.
The correct insertion of the fragments of interest was tested by restriction obtaining a linear plasmid for PPROEX1-E restricted with EcoRI and the
release of a 300 bp fragment from PPROEX1-DIII restricted with EcoRI and HindIII. By sequencing the inserted fragment we prove that the protein
we expressed in E.coli BL21 had a 99% of identity with the reference sequence DENV-2 NEW GUINEA, differing only in 0.2% in the nucleotide
sequence(3 nt) and 0.6% in the aminoacidic sequence (3 aa).
Overexpression of protein E was successful and the bands obtained were detected with the monoclonal antibody anti-E, confirming the presence
of this protein. SDS-PAGE of 4 elution fractions suggested that the purification with nickel columns was successful.
Conclusions. PPROEX1-E and PPROEX1-DIII constructs were successfully transform in E.coli BL21. Protein E was overexpressed and our
results suggest that the purification of the protein with nickel columns was successful although it should be improved.
Acknowledgements. This research project is supported by CONACYT and CINVESTAV.
References • Crill, W. D., & Roehrig, J. T. (2001). Monoclonal antibodies that bind to domain III of dengue virus E glycoprotein are the most efficient blockers of virus adsorption to Vero
cells. Journal of Virology, 75(16), 7769–73.
• Mercado-Curiel, R. F., Esquinca-Avilés, H. A., Tovar, R., Díaz-Badillo, A., Camacho-Nuez, M., & Muñoz, M. D. L. (2006). The four serotypes of dengue recognize the same
putative receptors in Aedes aegypti midgut and Ae. albopictus cells. BMC Microbiology, 6, 85
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Poster
B. Heriberto Santander-Lucio
CINVESTAV-IPN, MEXICO
THE ROLE OF MIGRATION ON TYPE 2 DIABETES MELLITUS
Heriberto Santander-Lucio1, Ashael A. Pérez–Muñoz1, Normand García-Hernández2, María de Lourdes Muñoz-Moreno1
1. Department of Genetic and Molecular Biology, CINVESTAV-IPN. Mexico.
2. Functional Genomic Laboratory, Pediatric Hospital, National Medical Center 21st Century. Mexico
Migration of populations is an ancient phenomenon, happening from the time of ancestors in Africa. More recently, migration has become much
more frequent with increasing global opportunities in business and technology and frequent international travel. It provides us a unique opportunity
to study the influence of various environment factors as risk factors of predominantly environmentally influenced diseases such Type 2 Diabetes
Mellitus (T2DM). In this work, we discuss the role of migration on the incidence and prevalence of T2DM in different ethnic groups and populations.
Our work strategy consisted in searching for information in the PubMed database using the terms “migration”, “diabetes” or “type 2 diabetes mellitus”
and “ethnic group”. Although T2DM is a global health problem, it appears that there are ethnic groups at higher risk of developing the disease.
According to a recent meta-analysis the risk size of T2DM varies by geographical origin of the group: three to five higher among South Asian, who
are particularly predisposed to develop insulin resistance and T2DM, two to four time higher among Middle Eastern and North African, and two to
three times higher among Sub-Saharan African origin. In addition, the prevalence of diabetes in Chinese immigrants to the United States, where
lifestyle and diets are very different, was found to be higher than in mainland China.
This indicates that environment factors seem to play a critical role in conferring and increase risk of T2DM. Although the remnant genetic effect
has been dominant in certain situations, influences of environmental and acquired factors on metabolic risks often override genetic influences.
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Poster
B. María Guadalupe Zapata-Moreno
UNIVERSIDAD AUTÓNOMA DE COAHUILA, MEXICO
EXPRESSION LEVEL OF BIRC5, CAV-1, ALDH2 AND FN1 GENES IN BREAST CANCER WOMEN RELATED WITH
SURVIVAL AND TREATMENT RESPONSE
María Zapata-Moreno (BCE), Karina Espino-Silva (PhD), Pablo Ruiz-Flores (PhD), Jorge Haro-Santa Cruz (PhD)
Centro de Investigación Biomédica, Universidad Autónoma de Coahuila
Key words: Breast cancer, BIRC5, CAV-1, ALDH2, FN1, gene expression
Introduction. Several genes have been related with prognosis, metastasis and survival of breast cancer (BC), some of them related with the cell
cycle, apoptosis, adhesion and cell migration, like BIRC5, CAV-1, ALDH2 and FN1. BIRC5 is a gene member of the inhibitor of apoptosis family of
proteins (IAP) which its overexpression has been correlated with poor prognosis in many types of cancer, including BC. On the other hand, the
caveolin protein encoded for CAV-1 gen is found in most cells, regulating multiple physiological process like vesicular transporting, cholesterol
homeostasis and signal transduction. The patients with BC with low or negative CAV-1 expression often have a lower survival rate, while survival
rate of those with high levels of Cav-1 expression are higher. Other genes that have been associated with the risk of BC by the alcohol oxidation
and cell migration ways, are respectively.
Methods. Incidents cases of BC were selected from the Oncology Services of participating hospitals, that accomplish the inclusion criteria until
complete 43 samples. Tumor and non-tumor tissue samples were processes to extract RNA and the quantification of gene expression was
performed by real-time PCR.
Results. After samples were analyzed, it was found that ALDH2 and FN1 had statistical difference between expression in adjacent tissue compared
to expression of tumor tissue. BIRC5 and FN1 did not show statistical difference in the expression.
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Conclusion. The expression of ALDH2 and CAV-1 genes is associated with the tumor development with statistical significance. This suggests a
relation between the regulation processes of oxidation and tumor via these genes. BIRC5 and FN1 did not show significant association with breast
tumor development, possibly this is due to the low sample size, so it is necessary to expand it to elucidate this fact.
Acknowledgements. This work was supported by Centro de Investigación Biomédica, UAdeC.
References Chen X, Duan N, Zhang C, Zhang W. Survivin and tumorigenesis: Molecular mechanisms and therapeutic strategies. J Cancer. 2016;7(3):314–23.
Fridolfsson HN, Roth DM, Insel PA, Patel HH. Regulation of intracellular signaling and function by caveolin. FASEB J. 2014;28(9):3823–31.
Wang SW, Xu KL, Ruan SQ, Zhao LL, Chen LR. Overexpression of caveolin-1 in cancer-associated fibroblasts predicts good outcome in breast cancer. Breast Care. 2012;7(6):477–
83.
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Poster
B. María Gutiérrez-Sánchez
CINVESTAV-IPN, MEXICO
ASSOCIATION BETWEEN MITOCHONDRIAL HAPLOGROUPS/HAPLOTYPES AND BREAST CANCER IN
MEXICAN POPULATION Gutiérrez-Sánchez, M.1; Pérez-Muñoz A. A.1; Moctezuma-Meza, C3; García-Hernández N.2; Muñoz, M.L.1
1. Departamento de Genética y Biología Molecular. Centro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional, Unidad Zacatenco
2. Unidad de Investigación Médica en Genética Humana. Hospital de Pediatría. Centro Médico Nacional Siglo XXI – IMSS.
3. Servicio de Oncología Quirúrgica. UMAE Hospital de Ginecología y Obstetricia Núm. 3 del Centro Médico Nacional “La Raza”, IMSS.
Introduction. Haplogroups are associated with a variation in a specific region of mtDNA as a result of gene drift and adaptive selection for an
environment-favored function and they also help to distinguish populations that have evolved independently during human history. Currently breast
cancer is a public health priority in Mexico as the most frequent neoplasm among women and it has been shown that mitochondrial DNA plays an
important role since different variants may confer risk or protection in the development of cancer. Thus, it is important to investigate whether the
mitochondrial haplogroups of the Mexican population confer risk or protection against breast cancer. This knowledge could help in cancer
prevention and in the early diagnosis of the disease.
Methods. It was obtained total DNA from tumor tissue from 100 patients diagnosed with breast cancer. The mitochondrial haplogroup was identified
by real-time PCR and D-loop region sequencing. Statistical tests were performed with a control group of women without breast cancer in order to
identify the association; the risk was estimated by odds ratio (OR).
Results. The haplogroup of 100 Mexican patients diagnosed with breast cancer was determined, 91% presented Amerindian haplogroup and 9%
were non-Amerindian. The most frequent haplogroup was haplogroup A with 36%, followed by B with 26%, followed by C with 16% and finally
haplogroup D with 13%. In addition, a total of 97 single nucleotide variants were identified in the control region, 33 in the Hypervariable Region II
and 64 in the Hypervariable Region I. From statistical analysis it was obtained that haplogroup D represents a risk factor for the development of
breast cancer (P=0.0004), specifically subhaplogroup D1 (P=0.02) and subhaplogroup B4 represents a protective factor in the development of
breast cancer (P=0.01). In addition, variant G16274A, characteristic of subhaplogroup D1, was present only in samples from patients diagnosed
with breast cancer and absent in the control samples, thus representing a risk factor for the development of the neoplasia (P=0.02) and finally the
T16519C variant also represents a risk factor for the development of breast cancer (P = 0.01).
Conclusions. In Mexican population haplogroup D, specifically subhaplogroup D1, variants G16274A and T16519C represent a risk factor for the
development of breast cancer while subhaplogroup B4 represents a protective factor.
References - Bai, R., Leal, S. M., Covarrubias, D., Liu, A., & Wong, L. C. (2007). Mitochondrial Genetic Background Modifies Breast Cancer Risk, (10), 4687–4695. http://doi.org/10.1158/0008-
5472.CAN-06-3554
- Weigl, S., Paradiso, A., & Tommasi, S. (2013). Mitochondria and familial predisposition to breast cancer. Current Genomics, 14(3), 195–203.
http://doi.org/10.2174/1389202911314030005
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Poster
Dr. Amy Goldberg
UNIVERSITY OF CALIFORNIA BERKELEY, USA
A MECHANISTIC MODEL OF ASSORTATIVE MATING IN AN ADMIXED POPULATION
Amy Goldberg & Noah Rosenberg
Deviations from random mating in which mating pairs have levels of similarity in phenotypic or genotypic traits that differ systematically from the
level expected under random mating are known as assortative mating. In humans, empirical studies suggest that spouses from admixed
populations, whose ancestry derives from two or more source populations, have correlated ancestry components that indicate the occurrence of
positive assortative mating on the basis of ancestry. Generalizing a two-sex mechanistic admixture model, we devise a model of assortative mating
that approximates ancestry-assortative mating through preferential mating based on source population. Under the model, we study the moments
of the ancestry component distribution for different models of mating. We demonstrate that while the mean ancestry under assortative mating is
equivalent to that of a randomly mating population, the variance increases with higher levels of positive assortative mating and decreases with
negative assortative mating. The effect of assortative mating is smaller on the X chromosomes than the autosomes because inheritance of the X
in males depends only on the mother's ancestry, not on the mating pair. As the variance of admixture is informative about the timing of admixture
and possibly sex-biased admixture contributions, the effects of assortative mating are important to consider in integrating this complexity. Our
model provides a framework to quantitatively study assortative mating under flexible scenarios of admixture over time.
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Poster
Dr. Larissa A. Tarskaia
UNIVERSITY OF KANSAS, USA
ENDOGAMY INDEX IN THE YAKUT (SAKHA) AND THE RUSSIAN POPULATION OF THE REPUBLIC OF SAKHA
(YAKUTIA) IN 1979, 1989 AND 2002
Authors: Tarskaia L.A. (PhD)1, El’chinova G.I.2(PhD), Barashkova A.S.3(PhD), Sukneva S.A.3 (PhD)
1 Laboratory of Biological Anthropology, University of Kansas, USA; 2 Research Center for Medical Genetics, Russia; 3 Institute of Regional Economy of the North,
Russia
Key words: Endogamy, Migration, Uluse/District
Introduction. Anthropological genetics and anthropological demography are both mutually important in understanding and interpreting the patterns
and causes of genetic variations in human populations. The size and composition of a population depends on three fundamental factors: fertility,
mortality, and migration. Marriage-migration behavior substantially affects the state of the population gene pool. One of the traditional tools to
describe the genetic demographic process in the population is an endogamy index. The endogamy index (EI) is defined as the proportion of
spouses that were born in the given population. High values of EI are indicative of the probability that spouses originate from the same population
and have common ancestors. We calculated the endogamy population characteristics in the Republic of Sakha (Yakutia) from 1979, 1989, and
2002.
Methods. The data of the marriage records (age, nationality/ethnicity, place of birth, place of residence at the time of marriage of each spouse)
from 35 districts/uluses and cities of Yakutsk, Mirny and Neryungri of the Republic of Sakha (Yakutia) (RS[Y]) in 1979, 1989 and 2002 (a total of
36,078 marriage records) were analyzed. This period was chosen due to socio-economic changes in the republic that influenced by the
demographic processes in the republic. We used standard methods of population statistical analysis (Cavalli-Sforza and Bodmer, 1971; El’chinova,
2004) to calculate the marriage migration and endogamy rate overall and of two major ethnic groups – Russians and indigenous Yakuts.
Results. The results show considerable variability among districts/uluses and cities as well as between monoethnic marriages (Russian*Russian
and Yakut*Yakut) in the level of endogamy in 1979, 1989 and 2002. It is known from the history of the republic that rapid development of the mining
industry brought an influx of immigrants, mainly Slavs, from European Russia and Ukraine since the 1960s. Thus, from 1960 to 1990, its population
almost doubled from 605,700 to 1,121,300, respectfully (Sukneva, 2017). Consequently, a total number of marriages increased from 7,189 in 1979
to 8,998 in 1989. However, the breakup of the Soviet Union in the 1990s resulted in outward migration of Slavs from the republic. In 2002, the
population decreased to 949,000 (Sukneva, 2017) and the number of all marriages declined to 5,190 as well. Total EI values were low and remained
the same in 1979 and 1989, 0.26 within uluses and 0.53 and 0.55 within the republic, respectively, with a considerable rise within both uluses and
the republic, 0.39 and 0.69, respectively in 2002. Endogamy index from one of two monoethnic marriages, Russian*Russian, significantly rose by
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283.3% from 1979 to 2002 within uluses and by 220.0% within the republic. However, EI rate for Yakut*Yakut marriages had increased only by
16.3% within uluses during this period and remained the same (EI 0.99) within the republic.
Conclusions. This study revealed that the marriage migration structure among indigenous Yakut population remained consistent with EI slightly
increasing from 1979 to 2002. On the other hand, Russian*Russian marriages considerably influenced by demographic changes with a very low
EI in 1979 and rapidly increasing by 2002. Therefore, migration activities have non-significant effect for the Yakut population than for the Russians
in the Republic of Sakha (Yakutia).
Acknowledgements. This study was supported by the Ministry of Education and Sciences of the Russian Federation (Research Project # №
26.8327.2017/8.9).
References 1. Cavalli-Sforza and Bodmer 1971 The Genetics of Human Populations. San Francisco: Freeman.
2. Elchinova 2004 Methods for Treating Population Genetic Data: Marriage Records, Medical Genetics 3(4):185-192.
3. Sukneva S (2017). Arctic Zone of the North-Eastern region of Russia: problems of demographic development. Electronic document. Retrieved August 7, 2017 from
http://econpapers.repec.org/paper/wiwwiwrsa/ersa/ersa14p744.htm
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85
Poster
B. Chad Gerhold
UNIVERSITY OF KANSAS, USA
MIGRATION AND INTERGENERATIONAL EFFECTS ON LINEAR GROWTH: BOAS REVISITED
Investigations into intergenerational effects on linear growth have been well defined amongst stationary populations. How parental migration
influences growth patterns of future generations is still unclear. To clarify this issue, I analyzed data published in 1928 in “Materials for the Study
of Inheritance in Man” by Franz Boas. Boas’s data includes a wealth of data pertaining to demographic, phenotypic and anthropometric
measurements of immigrant parents and their children, from 7 European ethnicities. All children were either born in their parents native country or
in the USA. In this present study, 3031 children (< 18 years of age) and their parents were analyzed to test if parental migration influences linear
growth. Height-for-age z-scores were constructed for individuals younger than 18 years of age to control for multicollinearity. Weighted linear mixed-
models were calculated to account for fixed and nested random effects in the statistical model. The results of the study found that time-elapsed
from mother immigration date, parental stature, and the family unit were the strongest predictors of linear growth amongst this sample of children.
The findings suggest there is a decade long lag period, after mothers’ immigration date, before changes in linear growth are observed amongst
generations born in the USA. This presentation concludes with a discussion of the findings and direction for future research
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Poster
B. Erika Itzel Landa-Chavarría
CINVESTAV-LANGEBIO, MEXICO
THE GENETIC STRUCTURE OF NAHUA POPULATIONS IN MEXICO
Nahua people are the most widespread and numerous ethnic groups in Mexico with 1.5 million of speakers. Culturally they are very heterogeneous
among them and share cultural traits not only with other ethnic groups but also with Europeans and Africans. Such intercontinental cultural
interchange and admixture was produced after European contact, but little is known about their ancestral relationships with other ethnic groups.
Historical data suggests a multi-ethnic origin and their cultural expressions a relationship with ethnic groups geographically close to them. According
to historical events the nowadays Nahua population diversity is the result of different demographic processes such as migrations, founder effects,
admixture, bottlenecks, decline and population growth. Despite their high relevance in shaping Mexico’s ethnic diversity, genomic characterizations
of Nahua populations remain scanty. Can Nahua genomes reveal their complex population history and their genetic relationship with other ethnic
groups? Here we analyzed 58 263 SNPs from 137 individuals from eight different Nahua populations across Central Mexico together with six
Mexican ethnic groups related to them in either a historical, linguistical and/or geographical way. We found a common Nahua component but also
a complex Nahua population substructure compared to other ethnic groups. Geographical relationships between Nahua and other ethnic groups
were observed by region. Speaking the same language facilitates gene flow but linguistical barriers seem to have been overcome with geographic
proximity. Nahuas from Central-South Mexico are genetically more related among them and Nahuas from North West are more differentiated, even
more than Purepecha or Totonac to Nahua. Population structure, homozygosity, genetic differentiation and patterns of population splitting and
migration modeling reveal novel ethnic relationships. Nevertheless, Nahua population substructure and demographic history remain a complex
phenomenon and as more genomic data from both ancient and modern indigenous groups are generated, new questions arise about their
evolutionary past.
IV. CULTURAL CAUSES OF MIGRATION