Human Population Genetics Evolution and Variation 27 seminar style presentations by leading world experts Series Editors: Prof. Luigi Luca Cavalli-Sforza and Prof. Marcus Feldman – Stanford University, USA State of the art briefings at your computer, when you want The Speakers them, as often as you want them Prof. Sir Walter Bodmer • Talks specially commissioned • For research scientists, graduate Prof. Luigi Luca Cavalli-Sforza for this series students and the most committed Dr. Nancy Cox senior undergraduates • Simple format – animated slides Prof. Kaare Christensen with accompanying narration, • Available online and on CD-ROM Prof. Andrew Clark synchronized for easy listening with licensing options to meet everyone’s needs Dr. Bertrand Desjardins • Look and feel of face-to-face Dr. Anna Di Rienzo seminars that preserve each • A must have resource for everyone Prof. Marcus Feldman speaker’s personality and involved in the evolution and variation approach of human population genetics Prof. Henry Greely Prof. Austin Hughes Topics covered Target audience Dr. Toomas Kivisild • Evolutionary history • Human geneticists Prof. Richard Klein • Evolutionary forces at play • Population geneticists Prof. Gil McVean • Markers • Evolutionary biologists Prof. S. Qasim Mehdi • The human phenotype • Molecular geneticists Prof. Joanna Mountain Prof. Masatoshi Nei • Population structure • Physiologists • Complex patterns of natural selection Dr. Yoshihito Niimura • Biological Prof. Neil Risch • The Human Genome Project anthropologists Dr. Noah Rosenberg • HapMap Project • Social anthropologists Dr. Merritt Ruhlen • Historical and geographical genetic • All researchers interested Dr. Theodore Schurr variation in human evolution Prof. Antonio Torroni Prof. Peter Underhill “These talks by many of the world's leading authorities are clearly presented, up-to-date and well-illustrated. They provide excellent and wide-ranging reviews of human genetic variation and Dr. James Weber its implications for recent human evolution, human diversity and health.” Prof. Kenneth Weiss Professor Chris Stringer Natural History Museum, London, UK Dr. Piri Welcsh A Henry Stewart Talks Series in the Biomedical and Life Sciences Human Population Genetics Evolution and Variation Human Population Genetics: An Overview 7. The Human Genomes Prof. Gil McVean – University of Oxford, UK 1. Modern Human Origins The nature of genetic polymorphism – Single nucleotide polymorphisms – Prof. Richard Klein – Stanford University, USA Differences between genomic regions – Differences between populations – Human evolution – Anatomical differences between Neanderthals and modern Inferences about human history from genetic variation – Detecting natural selection humans – African origin of modern human anatomy – Subsequent African origin of 8. Human Microsatellite and Minisatellite DNA Polymorphisms modern human behavior, including art and jewellery – Fate of the Neanderthals and Dr. James Weber – PreventionGenetics, USA other non-modern humans – Possibility that a genetic change prompted the Microsatellites: nomenclature and definitions – Discovery – Typing methodology – modern human expansion from Africa Abundance and types – Applications – Mutation – Biological functions – Evolution 2. History and Geography of Human Genetic Diversity I – Minisatellites Prof. Luigi Luca Cavalli-Sforza – Stanford University Medical School, USA 9. Human Population Structure Four major factors of evolution: mutation, natural selection, drift, migration – Role Dr. Noah Rosenberg – University of Michigan, Ann Arbor, USA of demography in the quantitative study of evolution – Drift: the Parma Valley study Geographic distribution of genetic variants – Private alleles – Pairwise differences – Equilibrium of migration and drift – Founders’ effect – Reconstructing between individuals – Partition of genetic variation – Population structure and evolutionary history of a population – Evidence of the importance of drift from inference of ancestry – Decline of heterozygosity with distance from Africa – Serial molecular evolution – Molecular evolution of proteins – Trees with proteins and sampling model for human evolution – Clines and clusters trees with DNA – Phylogeographic analysis – Microsatellites – Graphic presentation 10. The Signature of Local Adaptations in Human Polymorphism Data of evolution data by principal components analysis Dr. Anna Di Rienzo – University of Chicago, USA 3. History and Geography of Human Genetic Diversity II Changes in habit and life style during human evolution – Evolutionary dynamics of Prof. Luigi Luca Cavalli-Sforza – Stanford University Medical School, USA neutral and advantageous mutations – Signature of natural selection on patterns of Genetic markers inherited from a single parent – Mutational history of the Y variation linked to an advantageous variant – Distinguishing between demography chromosome (NRY) – Genealogies of Y chromosome and mitochondria – Of Adam and natural selection – Duffy blood group locus – Lactase persistence – Skin and Eve – Primates and Homo sapiens – Neanderthal and the spread of modern pigmentation – Salt sensitivity variants and hypertension humans from East Africa – The spread of modern humans according to Y chromosome – Areas of origin of agriculture and animal breeding – Spread of The Human Genome Project cultivated wheat to Europe in the Neolithic period – Geographic maps of the first 11. The HapMap Project three principal components of Europe – Coevolution and hitchhiking of Prof. Andrew Clark – Cornell University, USA commensals: Helicobacter pylori – Coevolution of humans and cattle The problem in pedigree analysis – A possible solution for the resolution limitations in pedigree analysis – Theory of two loci – Linkage equilibrium and disequilibrium – 4. History and Geography of Human Genetic Diversity III Recombination events between SNPs – Genealogical interpretation – Statistical Prof. Luigi Luca Cavalli-Sforza – Stanford University Medical School, USA significance of LD – The effect of random drift on linkage disequilibrium – Variability The human genome diversity project (HGDP) – Method structure – Limitations of of LD among different populations – Heterogeneity of LD across the genome – HGDP-CEPH – Are the clusters established by structure, “good” races – Correlation Hotspots of recombination – Tag SNPs – The HapMap website – Design of GWAS – between genetic and geographic distance – Decrease of genetic diversity in the Welcome Trust Case Control Consortium – Etiology human expansion as serial founder effect – Coevolution of genes and languages – Linguistic families: correlation of the genetic and linguistic trees – Darwin’s 12. Major Gene Families in Humans and their Evolutionary History statement – The complete tree of language evolution Dr. Yoshihito Niimura – Tokyo Medical and Dental University, Japan and Prof. Masatoshi Nei – The Pennsylvania State University, USA 5. Cultural Evolution Multigene family – Olfactory Receptors (ORs) – OR genes in humans – Comparison Prof. Marcus Feldman – Stanford University, USA of OR genes between humans and mice – Evolution of OR genes in vertebrates – Culture definition – Analogies between genes and culture – An example of cultural Other chemosensory receptor genes mutation – Vertical cultural transmission – Case studies – Selection with vertical 13. Natural Selection and Sequence Polymorphism transmission – The “Kuru” model – Transmission in models with three semes – Prof. Austin Hughes – University of South Carolina, USA Oblique transmission – Horizontal transmission – Rates of change – Cultural niche Inferring selection from patterns of nucleotide substitution – The Major construction in vertical transmission rates – Constraints on cultural variation – Histocompatibility Complex as an example of positive selection – Immunodeficiency Culture and its effect on genes – Quantification of genetic and cultural spread virus escapes from immune recognition – Purifying selection on Single Nucleotide 6. Linguistic Evolution Polymorphisms Dr. Merritt Ruhlen – Stanford University, USA 14. Human Y Chromosome Phylogenetics and Phylogeography Discovery of comparative linguistics – The Indo-Hittite family – Fundamentals of Prof. Peter Underhill – Stanford University Medical School, USA linguistic taxonomy – Alfredo Trombetti – The Eurasiatic language family – African Framework of human genetic variation – Locus specific forces vs. population level language families – The Dene-Caucasian family – The Amerind language family – forces – Y chromosome DNA sequence variation – Genetic memory – Phylogenetics, Monogenesis – Origin and evolution of word order – Linguistic, genetic and principles and characteristics – Out of Africa – Y chromosome phylogeography – archaeological evidence for human migrations Recovering population histories To order online and view extracts from the series, please visit www.hstalks.com/humpop/ 15. Evolution of Human Mitochondrial DNA Lineages selection (heterozygote advantage) vs. genetic drift – Mutation frequencies, ages and Dr. Toomas Kivisild – University of Cambridge, UK geographic distributions – Bottlenecks in Jewish history Origins of mitochondria – Maternal pedigrees – Selective constraints – mtDNA 23. The Genetics of French Canadians population structure – Human origins models – Continental variation of mtDNA Dr. Bernard Brais, Dr. Bertrand Desjardins and Dr. Damian Labuda – Université de lineages – Distribution of synonymous and non-synonymous mutations Montréal, Dr. Marc St-Hilaire