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- Human Population Genetics: An Overview
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1. Modern human origins
- Prof. Richard Klein
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2. History and geography of human genetic diversity I
- Prof. Luigi Luca Cavalli-Sforza
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3. History and geography of human genetic diversity II
- Prof. Luigi Luca Cavalli-Sforza
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4. Cultural evolution
- Prof. Marcus Feldman
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5. The human genomes
- Prof. Gil McVean
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6. Human population structure
- Prof. Noah Rosenberg
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7. The signature of local adaptations in human polymorphism data
- Dr. Anna Di Rienzo
- The Human Genome Project
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8. The HapMap project
- Prof. Andrew Clark
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9. Major gene families in humans and their evolutionary history
- Prof. Yoshihito Niimura
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10. Evolution of human mitochondrial DNA variations
- Prof. Toomas Kivisild
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11. Ethical issues in human population genetics
- Prof. Henry Greely
- Important Phenotypic Phenomena
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12. Evolution: how genes and their variation got here
- Prof. Kenneth Weiss
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13. The genetic component to diabetes
- Dr. Nancy Cox
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14. Genetics of breast and ovarian cancer
- Prof. Jeffrey Weitzel
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15. Colorectal cancer and the rare variant hypothesis
- Prof. Sir Walter Bodmer
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16. Genetic diseases in the Jewish population
- Prof. Neil Risch
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17. The genetics of French Canadians
- Dr. Bernard Brais
- Dr. Bertrand Desjardins
- Prof. Damian Labuda
- Dr. Marc St-Hilaire
- Prof. Marc Tremblay
- Prof. Helene Vezina
- Historical and Geographical Genetic Variation
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18. Human genetic variation of Africa
- Prof. Joanna Mountain
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19. Genetics of Pakistani populations in an Asian and global context
- Prof. S. Qasim Mehdi
- Archived Lectures *These may not cover the latest advances in the field
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20. The genetics of breast and ovarian cancer
- Dr. Piri Welcsh
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21. Historical and geographical genetic variation: Europe
- Prof. Antonio Torroni
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22. Linguistic evolution
- Dr. Merritt Ruhlen
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23. Human microsatellite and minisatellite DNA polymorphisms
- Dr. James Weber
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24. Human population genetics: lifespan
- Prof. Kaare Christensen
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25. History and geography of human genetic diversity III
- Prof. Luigi Luca Cavalli-Sforza
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26. Major gene families in humans and their evolutionary history
- Prof. Yoshihito Niimura
- Prof. Masatoshi Nei
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27. Natural selection and sequence polymorphism
- Prof. Austin Hughes
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28. Human Y chromosome phylogenetics and phylogeography
- Prof. Peter Underhill
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29. The peopling of the Americas: new insights from genetic studies
- Dr. Theodore Schurr
Printable Handouts
Navigable Slide Index
- Introduction
- Deoxyribonucleic acid (DNA) structure
- The genetic code
- Given 4 nucleotides and 20 amino acids
- Codon chart
- Nucleotide substitutions in coding regions
- Synonymous and nonsynonymous sites
- DNA code redundancy and natural selection
- Natural selection - Darwin and Wallace 1859
- Natural selection: the basic idea
- Two kinds of natural selection
- Purifying selection
- Positive (Darwinian) selection
- Two forms of positive selection
- A relationship described by Motoo Kimura
- The total mutation rate variation
- Synonymous vs. nonsynonymous sites
- Nucleotide substitutions per site
- Comparing dS and dN: dS greater than dN
- Computing dS and dN
- Comparison of orthologous loci: human vs. mouse
- Ratio mean dS: mean dN = 6.5:1
- Comparing dS and dN: dN greater than dS
- Example of positive selection at the DNA level
- The major histocompatibility complex (MHC)
- Two main subfamilies of MHC genes
- Class I MHC
- HLA-A, -B, and -C are highly polymorphic
- Two MHC mysteries
- Zinkernagel and Doherty (1974)
- Schematic view of MHC class I function
- MHC class I structure
- Peptide-binding region (PBR)
- Doherty and Zinkernagel's (1975) hypothesis
- Predictions about nucleotide substitutions
- dN and dS in PBR
- dN and dS in non-PBR
- Nucleotide substitution at MHC loci
- Class I MHC apply selective pressure on viruses
- CTL escape mutation
- Experiments with SIV in rhesus monkeys
- CTL epitope in the tat protein of SIV
- Genome map of SIV
- dS and dN: tat and vpr genes
- Amino acid replacements in tat epitope
- Convergent evolution
- Rhesus monkey/SIV model system
- Importance of purifying selection
- Complex disease
- Single nucleotide polymorphisms (SNPs)
- Frequency data for 1442 SNPs
- Silent versus nonsynonymous SNPs
- Gene diversity for different SNPs categories
- Evidence for purifying selection on common SNPs
- Nonsynonymous SNPs cause less radical changes
- Comparison with mouse model (1)
- Comparison with mouse model (2)
- Candidate SNPs for complex diseases association
- Slightly deleterious SNPs in the human genome
- Effect of bottleneck on allele frequency
- Natural selection - brief history of an idea
- Natural selection at the DNA level
- Two kinds of natural selection: conclusions
Topics Covered
- Inferring selection from patterns of nucleotide substitution
- The Major Histocompatibility Complex as an example of positive selection
- Immunodeficiency virus escapes from immune recognition
- Purifying selection on Single Nucleotide Polymorphisms
Talk Citation
Hughes, A. (2007, October 1). Natural selection and sequence polymorphism [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved April 27, 2024, from https://hstalks.com/bs/312/.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Austin Hughes has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.