GENETICS I:

Introduction to Genetics

Assist. Prof. Dr. Betul Akcesme

NS209 Genetics I

Office: F1.7

bakcesme@ius.edu.ba

Monday-Wednesday 13:30-14:45

Classroom: A F1. 10

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• Books:

• Genetics From Genes to genomes .

Hartwell. Hood. Goldberg. Reynolds. Silver. Veres. 4th edition

• Essential of Genetics, by W. Klug , M. Cummings, C. Spencer, M. Palladino , 9th edition,

Weekly schedule

Summarized content of the course

• Week 1

• Introduction to Genetics

DNA structure

• Week 2

• Chromosome and

Chromatin structure

• Week 3 -4

• Mitosis

• Meiosis

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• Week 5-6

• Mendelian Genetics

▫ Law of segregation

▫ Law of independent

assortment

9

• Week 7

• Extensions to Mendel's

Law

• Week 8

Gene structure and

organization overview

10

• Week 9

• Replication and

recombination

• Week 10

• Mutations

11

• Week 11

• Gene Expression: The

Flow of Information from

DNA to RNA

• Week 12

• The Flow of Information

from RNA to Protein:

TRANSLATION

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• Week 13

• Linkage, Recombination, and

the mapping of genes on

chromosome

• Week 14

• Digital Analysis of DNA

▫ PCR

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Lab Activities and tutorials:

• Weekly basis tutorials for practice!

• Lab activities will be announced before one

week.

• 1. Mitosis

• 2.Meiosis

• 3. PCR

• Lab reports!

SEVERAL REMINDERS!!

• Attendance of lectures and tutorials are

MANDATORY!

▫ Up to 30% absence is tolerated! ( 9 out of 28)

• Submission of assignments and lab reports on

time!

• Copy-Past is strictly forbidden for assignments

and lab reports!!

What is Genetics?

… the study of heredity and the variation of inherited characteristics.

Why studying genetics?

Why is genetics important?

What are the reasons of its rapid development?

Explains how are the traits inherited from parents to offspring.

The field of natural sciences concerned with the diversity, replication, mutation and expression of the information in the genes.

What is Genetics?

The importance of genetics

Genes influence our lives! How?

• Height • Weight • Hair color • Skin pigmentation • Our susceptibility to diseases • Contribute to our inteligence and personality …

They affect our:

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Some traits determined by our genes

Dominant Recessive

Low heart rate High heart rate

Unattached (free) earlobe Attached earlobe

straight nose turned up nose

extra finger or toe Normal 5 fingers and toes

Curly Hair Flat hair

A and B blood type O blood type

Broad Lips Slender lips

large eyes Small eyes

Darker hair Lighter hair

long eyelashes Short eyelashes

Slower aging accelerated aging

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Genes are fundamental to WHO and WHAT we are

• Agriculture

• Pharmaceutical

industry

• Biotechnology

• Medicine

Genetics influenced:

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The role of genetics in biology

Understanding of genetics is

important to ALL people, but

CRUCIAL to the students in

the life sciences.

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Genetics provides one of the biology’s unifying principles: all organisms

- Use the same genetic system

The study of all most every field of biology is incomplete without understanding of

genes (and genetic methods)

Genetic variation is the foundation of the diversity of all life

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Basic division of Genetics

Transmission genetics

(Mendelian Genetics)

Molecular genetics

Population genetics

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Quantitative genetics

Transmission genetics -Mendelian Genetics

• FOCUS: is on INDIVIDUAL

• How an individual organism inherits

its genetic make up and how it passes

its genes to the next generation

• Phenotype

• Cell and chromosomes

• Cell division

• Simple and complicated forms of

inheritance

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Molecular Genetics

• FOCUS: is the GENE

• Its structure, organization and function

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Population genetics

• FOCUS: the group of

genes found in a

POPULATION

• it’s a search for patterns

that help describe the

genetic signature of a

particular group

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Quantitative Genetics

• A highly mathematical

field that examines the

statistical relationships

between genes and the

traits they encode.

Model Organisms

• Almost all major groups of

▫ Bacteria

▫ Fungi

▫ Protists

▫ Plants and

▫ Animals

• Model organisms: organisms with characteristics that make them particularly

useful for genetic analysis

• About which a large amount of genetic information has been accumulated

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Classical genetics

1865: Gregor Mendel's paper, Experiments on Plant Hybridization

1869: Friedrich Miescher discovers a weak acid in the nuclei of white blood cells that today we call DNA

1889: Hugo de Vries postulates that "inheritance of specific traits in organisms comes in particles", naming such particles "(pan)genes"

1903: Walter Sutton and Theodor Boveri hypothesizes that chromosomes, which segregate in a Mendelian fashion, are hereditary units

1908: Hardy-Weinberg law derived

1910: Thomas Hunt Morgan shows that genes reside on chromosomes

1913: Alfred Sturtevant makes the first genetic map of a chromosome

1928: Frederick Griffith discovers that hereditary material from dead bacteria can be incorporated into live bacteria (see Griffith's experiment)

1931: Crossing over is identified as the cause of recombination

1941: Edward Lawrie Tatum and George Wells Beadle show that genes code for proteins; see the original central dogma of genetics

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1944: The Avery–MacLeod–McCarty experiment isolates DNA as the genetic material (at that time called transforming principle)

1948: Barbara McClintock discovers transposons in maize

1950: Erwin Chargaff shows that the four nucleotides are not present in nucleic acids in stable proportions, but that some general rules appear to hold (e.g., that the amount of adenine, A, tends to be equal to that of thymine, T).

1952: The Hershey-Chase experiment proves the genetic information of phages (and all other organisms) to be DNA

1953: DNA structure is resolved to be a double helix by James D. Watson and Francis Crick[11]

1956: Joe Hin Tjio and Albert Levan established the correct chromosome number in humans to be 46

1958: The Meselson-Stahl experiment demonstrates that DNA is semiconservatively replicated

1961 - 1967: Combined efforts of scientists "crack" the genetic code, including Marshall Nirenberg, Har Gobind Khorana, Sydney Brenner & Francis Crick

1964: Howard Temin showed using RNA viruses that the direction of DNA to RNA transcription can be reversed

1970: Restriction enzymes were discovered in studies of a bacterium, Haemophilus influenzae, enabling scientists to cut and paste DNA

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The

DNA

era

The g

enom

ics

era

1972: Walter Fiers and his team at the Laboratory of Molecular Biology of the University of Ghent (Ghent, Belgium) were the first to determine the sequence of a gene: the gene for bacteriophage MS2 coat protein.

1977: DNA is sequenced for the first time by Fred Sanger, Walter Gilbert, and Allan Maxam working independently. Sanger's lab sequence the entire genome of bacteriophage Φ-X174.

1983: Kary Banks Mullis discovers the polymerase chain reaction enabling the easy amplification of DNA

1989: The human gene that encodes the CFTR protein was sequenced by Francis Collins and Lap-Chee Tsui. Defects in this gene cause cystic fibrosis

1995: The genome of Haemophilus influenzae is the first genome of a free living organism to be sequenced

1996: Saccharomyces cerevisiae is the first eukaryote genome sequence to be released 1998: The first genome sequence for a multicellular eukaryote, Caenorhabditis elegans, is released 2001: First draft sequences of the human genome are released simultaneously by the Human Genome Project and Celera Genomics.

2003 (April 14th) : Successful completion of Human Genome Project with 99% of the genome sequenced to a 99.99% accuracy

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