Genetic Genealogy: What Can DNA Testing Tell Me About My ... · Genetic Genealogy: What Can DNA...
Transcript of Genetic Genealogy: What Can DNA Testing Tell Me About My ... · Genetic Genealogy: What Can DNA...
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Genetic Genealogy:What Can DNA Testing Tell Me
About My Ancestry?
John M. Butler, PhD
November 7, 2015
Family History Conference (Charlottesville, VA)
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Top Ten… Reasons You May Have
Decided to Attend This Presentation
10. You know my wife
and she threatened to
take you off of our
Christmas card list if
you didn’t come and
support me today.
Terilynne has
the “Wright” stuff
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Top Ten… Reasons You May Have
Decided to Attend This Presentation
9. You are hoping I will show scientific proof
that Wahoos really are genetically superior
to Hokies.
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Top Ten… Reasons You May Have
Decided to Attend This Presentation
8. You thought DNA stood for the National
Dyslexia Association and wanted to join.F
rom
Go
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Top Ten… Reasons You May Have
Decided to Attend This Presentation
7. You wanted a morning nap and thought that a
scientific topic might be the best way to get
some extra sleep
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Top Ten… Reasons You May Have
Decided to Attend This Presentation
6. You came to see if DNA could verify that
Mahonri Moriancumer was the Brother of
Jared.
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Top Ten… Reasons You May Have
Decided to Attend This Presentation
5. You are looking for a good recipe for a
new jello salad…
A DNA jello salad that I made for a ward
party to celebrate the 50th anniversary
of the double helix in April 2003
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Top Ten… Reasons You May Have
Decided to Attend This Presentation
4. You have been watching too much CSI: Crime
Scene Investigation and you are “dying” to
learn more about DNA.
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Top Ten… Reasons You May Have
Decided to Attend This Presentation
3. Being from Charlottesville, you want to
know if DNA can prove that Thomas
Jefferson fathered Sally Heming’s children
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Top Ten… Reasons You May Have
Decided to Attend This Presentation
2. John Butler? – I thought this was
John Bytheway!
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Top Ten… Reasons You May Have
Decided to Attend This Presentation
1. You slept through the previous
presentation and are now just waking up
to discover that a new class has started!
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Welcome to this Class on DNA
I have decided to dedicate this presentation to
the memory of my father-in-law Willard Wright
Although Willard
passed away 28 years
ago (18 Dec 1987),
some of his DNA lives
on in my children…
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We Live in the “Genomics Age”
• A genome is the complete DNA sequence
(instruction book) for an organism
• 1953 – DNA structure described by Watson & Crick
• 1995 – first genome of a living organism
• June 26, 2000 – announcement of human genome
draft sequence
• April 25, 2003 – completion of the human genome
reference sequence
• November 2015 – thousands of human genomes
have been sequenced
Other organisms completed (dog, rice, duck-billed platypus, etc.)
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What is Fueling Growth in Genomics?
• New DNA sequencing technologies
• More powerful computers
• Globalization of science
• Interest of the public in ancestry testing
• Value to medical research
• Passage of GINA
– Genetic Information Nondiscrimination Act
– Signed by President Bush May 21, 2008
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The Human DNA Genome within a Cell
Nuclear DNA(3.2 billion bp)
Mitochondria = the power
houses for the cell
(hundreds per cell)
Mitochondrial DNA(16,569 bp)
The Nucleus = control
center for the cell
(one per cell)
Inherited from only
your motherInherited from both
your mother and your father
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Autosomes – 22 pairs – 2 copies per cell
Cell Nucleus – 3 billion bp
Sex Chromosomes (XX or XY)
mitochondria – in cell cytoplasm
100s of mtDNA copies per cell
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Father’s Sperm Mother’s Egg
Child’s Cell
Father’s
Sperm
Mother’s
Egg
Father contributes: 22 autosomes (1 of each pair), X or Y
Mother contributes: 22 autosomes (1 of each pair), X and mtDNA
Genetic Inheritance
Nuclear
DNA
Mitochondrial
DNA
Current scientific thinking:
•~99.9% of 6 billion letters (2 x 3 billion bp)
are the same between people
•This 0.1% is still ~6 million differences
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Genetic Markers Examined
with Ancestry Testing
Y chromosome
– Passed from father to son without change (unless a
mutation occurs)
– Two types of genetic markers are typically examined:
• Y-STRs (short tandem repeats) – provides finer detail
• Y-SNPs (single nucleotide polymorphisms) – big picture view
mtDNA
– Passed from mother to offspring without change (unless
a mutation occurs)
– Typically a section of the 16,569 bp mtDNA is sequenced – a
haplogroup is assigned by presence of specific DNA mutations
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Four-Generation Genealogical Pedigree
9
10
11
12
13
14
15
4
5
6
7
2
3
1
8
Individual
Parents
Grandparents
Great-grandparents
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A Genetic Pedigree is typically shown
Vertically rather than Horizontally
9 10
11
12
13
14
15
4 5 6 7
2 3
1
8
male
female
parents
offspring
deceased
LEGEND
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A Four-Generation Pedigree
1
2
3
4
Autosomal DNA
1/8 from Great-grandparents
male
female
parents
offspring
deceased
LEGEND
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Lineage Markers:
Y-Chromosome
Y chromosome
passed along
paternal lineage
Autosomal DNA
1/8 from Great-grandparents
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Lineage Markers:
Y-Chromosome and Mitochondrial DNA
Y chromosome
passed along
paternal lineage
Autosomal DNA
1/8 from Great-grandparents
mtDNA genome
passed along
maternal lineage
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So to Review…
Y-chromosome testing could have helped
Luke Skywalker to confirm this information
Luke,
I am your
father…
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Window to the Past
ChrY mtDNA
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Categories of Ancestry Testing
• Deep Ancestry (“Genetic Geography”)
– Looking for relationships from >1000 years ago
– Offers a big picture view of our past
– Involves testing with lower resolution genetic markers
(e.g., Y-SNPs) to determine Haplogroups
• Genetic Genealogy
– Looking for relationships from <1000 years ago
– Tries to provide a link between related people
– Involves testing with higher resolution genetic
markers (e.g., Y-STRs) to determine Haplotypes
Group comparisons
Individual comparisons
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Building
Continent
2000 mi scale
50 ft scale(~200,000x)
A Comparison with Maps (to Illustrate Scales and Resolution of Detail)
Country State Region
County City Campus
http://maps.google.com/
Deep Ancestry (markers with lower mutation rates – Y-SNPs - Haplogroups)
Genetic Genealogy (markers with higher mutation rates – Y-STRs - Haplotypes)
Individual
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Methods for Studying Deep Ancestry(Human Migrations Throughout Time)
• Examination of living individuals
– Sampling from aboriginal (native) peoples, where possible
– Making assumptions regarding the past associations
of population groups
• Analysis of ancient DNA
– Recovering DNA from fossil remains, which
unfortunately are few and far between
– Provides a peek into the past (for a single individual)
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The Genographic Project
• Funded $50 million for 5 years by IBM and National Geographic
• Have gathered and run DNA samples from ~50,000 people around the world with Y-SNPs and mtDNA
• For U.S. participants, FamilyTree DNA lab is running 12 Y-STRs or sequencing mtDNA HV1 (as of April 2010 more than 350,000 people had bought a test kit)
https://genographic.nationalgeographic.com/
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John Relethford
“Although working in
such a young and
developing field is
exciting, it is also
frightening because
the knowledge base
changes so rapidly.”
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Genetics and the Search for Modern
Human Origins (2001), p. 205
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John Relethford
“We must be careful not to
make too many inferences
about earlier populations
based on the genetic
composition of living
populations. Populations
change over time, and the
more time that elapses,
the greater the difficulty of
using living samples as
proxies for earlier ones.”htt
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Reflections on Our Past (2003), p. 143
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Genetic
Genealogy
Tracing your roots
with DNA
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Differences in DNA Studies
• Deep Ancestry – analysis of population groups to try and
get a big picture view of human history (involves lots of
assumptions)
• Genetic Genealogy – comparing individuals living today
to see if they are genetically similar and thus may have a
common ancestor (may not enable all desired links)
• Forensic/Paternity DNA Testing – directly matching
results from evidence to suspect or first-degree biological
relatives (e.g., parents or children)
All three approaches may use the same genetic markers
(e.g., mtDNA or Y-STRs) but use different reference samples
and provide different levels of confidence in the results
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Perhaps the Real Reason Some Genetic
Genealogy Is Performed…
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Some of the Genetic Genealogy Companies
This is a very rapidly growing field with a lot
of interest from the general public…
http://www.oxfordancestors.com
http://www.familytreedna.com http://www.relativegenetics.com
http://www.sorensongenomics.com
http://dna.ancestry.com
https://www.23andme.com/
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What is involved in a DNA ancestry test?
• You pay a company money
• You supply a sample of your DNA (through swabbing the inside of your mouth to collect cheek cells)
• You wait for several weeks for the company to send you results from their test(s)
• You try and understand the results of their test(s)
• You search the company’s database of DNA results hoping to find a relative
• You try and recruit potential distant relatives to contribute their DNA so that your efforts will be meaningful
• Then you set up a website with your results and blog about your success or failure!
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Ancestry DNA Tests (Using Lineage Markers)
Y-Chromosome Tests, which examine
genetic traits passed on from father to
son, provide only a partial picture of the
past paternal lineage
Mitochondrial DNA (mtDNA) Tests,
which examine genetic traits passed
on from mother to children, provide
only a partial picture of the past
maternal lineage
Someone living today
= male
= female
The genetic signatures of many
ancestors (and people alive years ago
without living descendants) are never seen
when testing modern DNA samples
Ancestor 1
Ancestor 2
Ancestor 3
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International Society of Genetic Genealogy
http://www.isogg.org
An excellent resource for further
information on genetic genealogy
including cost comparisons between
the various DNA testing companies
http://www.isogg.org/wiki/List_of_DNA_testing_companies
http://www.isogg.org/wiki/Autosomal_DNA_testing_comparison_chart
http://www.isogg.org/wiki/MtDNA_testing_comparison_chart
http://www.isogg.org/wiki/Y-DNA_STR_testing_chart
http://www.isogg.org/wiki/Y-DNA_SNP_testing_chart
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Ugo Perego
(Consultant)
Katherine
Borgess
(ISOGG)
Miguel Vilar
(Genographic
Project)
John Butler
(NIST)
August 16, 2014 at
International Genetic
Genealogy Conference
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ISOGG Y-DNA Testing Comparison Chart
http://www.isogg.org/wiki/Y-DNA_testing_comparison_chart
Chart revised on: September 10, 2015
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Comparative Data for the 3 Major Genetic
Genealogy Testing Companies
*Note: 23andMe matches must be invited to share and communicate.
Services were at one time provided for customers with both medical and genealogy interests.
Approximately 30-40% of customers will not respond to genealogic sharing requests.
**Note: 23andMe Y- DNA results (SNP marker) can not be compared directly with Family Tree DNA (STR marker) results.
Deep ancestry (or more general interpretations of Y-DNA haplotype groups) can be compared.
Company Number of Typings As of Test Cost Marker Type Number of Markers
Autosomal DNA
23andME *700,000+ 2014 $99 SNP 577,382
Ancestry.DNA 400,000+ 30-May-14 $79, $99 after 8/25/2014 SNP 682,549
Family Tree DNA 42,828 21-Aug-14 $99 SNP 708,092
Y-DNA
23andME *700,000+ 2014 **included with autosomal test SNP Haplogroup by SNPs
Ancestry.DNA Not Tested 30-May-14 NA NA NA
Family Tree DNA 512,503 21-Aug-14 **$169-$359 STR 37-111
Mt-DNA
23andME *700,000+ 2014 **included with autosomal test SNP Haplogroup by SNPs
Ancestry.DNA Not Tested 30-May-14 NA NA NA
Family Tree DNA 183,651 21-Aug-14 **$59-$199 SEQ HVR1&2/Full Seq
Slide prepared courtesy of Dr. Eric Williams (August 2014 for BYU Education Week)
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Size Matters with Genetic Genealogy
DNA Databases
• The more individuals that have been tested
and can be searched, the greater the chance
to match a relative.
Claim on FamilyTree DNA website: Our database is the
largest in the field of Genetic Genealogy. As of August 20,
2014, the Family Tree DNA database has 696,154 records.
http://www.familytreedna.com/
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75 matches
8 of top 10
are “Butler”
http://www.ysearch.org/
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9. Edmund Butler (1694-1747)
8. William Butler (1740-1790)
7. James Butler (1770-1835)
6. John Lowe Butler (1808-1860)
5. James Butler (1847-1900)
4. John Topham Butler (1879-1940)
3. Karl Douglas Butler (1910-2002)
2. Karl Douglas Butler Jr. (1942- )
1. John Marshall Butler (1969- )Marshall Scott Butler (1998- )
Ethan Samuel Butler (2004- )
America (VA, NC, KY, … MD)
26. Theobald Fitz Walter, 1st Butler (1165-1206)
25. Theobald Le Botiller (1200-1285)
24. Theobald Butler 3rd Butler of Ireland (1223-1248)
23. Theobald Boteler 4th Butler of Ireland (1242-1285)
22. Edmund Le Botiller (1275-1321)
21. James Butler Sir (1304-1338)
20. James Butler “The Noble” 2nd Earl (1331-1405)
19. James Richard Butler, 3rd Earl (1361-1405)
18. James le Botiller Earl of Ormond (1392-1452)
17. Thomas le Butler Earl of Ormond (1426-1515)
16. Pierce Butler Earl of Ormond (1467-1539)
15. Sir James Butler (1496-1546)
14. Walter Butler of Nodstown (1538-1560)
13. Pierce Butler (1558-1627)
12. James Butler (1586-1633)
11. John Butler (1616-____)
10. Samuel Butler (1654-1718)
Ireland (Kilkenny & Tipperary)
I have an Irish Y-chromosome!
33 Generations on my direct Butler line based on FamilySearch.org (as of 6 Nov 2015)
France and England
33. Richard I, Duke of Normandy (933-___)
32. Geoffrey, Count D’Eu & Brionne (953-___)
31. Gilbert Fitzgeoffrey de Brionne (985-1030)
30. Richard FitzGilbert de Clare (1030-1091)
29. Gilbert FitzRichards de Clare (1055-1114)
28. Hervey de Clare (1085-____)
27. Hevery II de Clare (1125-____)
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Kilkenny Castle in Kilkenny, Ireland
• Original stone castle completed in 1213
• Purchased in 1391 by James Butler, 3rd Earl of Ormond
• Butlers lived here until 1935
• Turned over to the people of Kilkenny in 1967
https://en.wikipedia.org/wiki/Kilkenny_Castle
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Thomas Jefferson II
Field Jefferson Peter Jefferson
President
Thomas Jefferson
Eston Hemings Thomas Woodson
Different Y Haplotype
Same Y
Haplotype
Jefferson
Y Haplotype
Jefferson
Y Haplotype
?
Figure 9.10, J.M. Butler (2005) Forensic DNA Typing, 2nd Edition © 2005 Elsevier Academic Press
Historical Investigation of Jefferson-Hemings DNA
SOURCE: Foster et al. (1998) “Jefferson
fathered slave’s last child.” Nature 396:27-28
What if
false
paternity
later?
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Does DNA Prove that Jefferson
Fathered His Slave’s Children?
• Other male Jeffersons
could be the father
(known to be 25 male
Jeffersons living in
Central Virginia then)
• Thomas Jefferson’s
younger brother
Randolph was friendly
with the slaves
http://w
ww
.pbs.o
rg/w
gbh/n
ova/isra
el/fa
mily
jeff
ers
on.h
tml
No!
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Lessons from Jefferson-Hemings Case
• Tests cannot be fully conclusive although
interesting possibilities were shown
– False positive – other male Jeffersons could be the
father (25 male Jeffersons lived in the area)
– False negative – a single instance of non-paternity
could break the lineage (e.g., Thomas Woodson?)
• Similar to DNA and Book of Mormon controversy
in that the press and public extrapolate beyond
what is scientifically possible or appropriate to
state as valid conclusions
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Thank you for your attention!http://w
ww
.daily
ga
laxy.c
om
/my_
weblo
g/im
ages/s
hutters
tock_2394636_1.jpg