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Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa

Sohini RamachandranDepartments of Biological Sciences and Computer Science, Stanford University, Stanford, CA 94305; Department of Anthropology, University of Illinois at Urbana-Champaign, 209 Davenport Hall, 607 South Matthews Avenue, Urbana, IL 61801; Department of Human Genetics, Bioinformatics Program and Life Sciences Institute, University of Michigan, 2017 Palmer Commons, 100 Washtenaw Avenue, Ann Arbor, MI 48109-2218; and Department of Genetics, School of Medicine, Stanford University, Stanford, CA 94305-5120Omkar DeshpandeDepartments of Biological Sciences and Computer Science, Stanford University, Stanford, CA 94305; Department of Anthropology, University of Illinois at Urbana-Champaign, 209 Davenport Hall, 607 South Matthews Avenue, Urbana, IL 61801; Department of Human Genetics, Bioinformatics Program and Life Sciences Institute, University of Michigan, 2017 Palmer Commons, 100 Washtenaw Avenue, Ann Arbor, MI 48109-2218; and Department of Genetics, School of Medicine, Stanford University, Stanford, CA 94305-5120Charles C. RosemanDepartments of Biological Sciences and Computer Science, Stanford University, Stanford, CA 94305; Department of Anthropology, University of Illinois at Urbana-Champaign, 209 Davenport Hall, 607 South Matthews Avenue, Urbana, IL 61801; Department of Human Genetics, Bioinformatics Program and Life Sciences Institute, University of Michigan, 2017 Palmer Commons, 100 Washtenaw Avenue, Ann Arbor, MI 48109-2218; and Department of Genetics, School of Medicine, Stanford University, Stanford, CA 94305-5120Noah A. RosenbergDepartments of Biological Sciences and Computer Science, Stanford University, Stanford, CA 94305; Department of Anthropology, University of Illinois at Urbana-Champaign, 209 Davenport Hall, 607 South Matthews Avenue, Urbana, IL 61801; Department of Human Genetics, Bioinformatics Program and Life Sciences Institute, University of Michigan, 2017 Palmer Commons, 100 Washtenaw Avenue, Ann Arbor, MI 48109-2218; and Department of Genetics, School of Medicine, Stanford University, Stanford, CA 94305-5120Marcus W. FeldmanDepartments of Biological Sciences and Computer Science, Stanford University, Stanford, CA 94305; Department of Anthropology, University of Illinois at Urbana-Champaign, 209 Davenport Hall, 607 South Matthews Avenue, Urbana, IL 61801; Department of Human Genetics, Bioinformatics Program and Life Sciences Institute, University of Michigan, 2017 Palmer Commons, 100 Washtenaw Avenue, Ann Arbor, MI 48109-2218; and Department of Genetics, School of Medicine, Stanford University, Stanford, CA 94305-5120Luigi Luca Cavalli-SforzaDepartments of Biological Sciences and Computer Science, Stanford University, Stanford, CA 94305; Department of Anthropology, University of Illinois at Urbana-Champaign, 209 Davenport Hall, 607 South Matthews Avenue, Urbana, IL 61801; Department of Human Genetics, Bioinformatics Program and Life Sciences Institute, University of Michigan, 2017 Palmer Commons, 100 Washtenaw Avenue, Ann Arbor, MI 48109-2218; and Department of Genetics, School of Medicine, Stanford University, Stanford, CA 94305-5120

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Annotatsiya

Equilibrium models of isolation by distance predict an increase in genetic differentiation with geographic distance. Here we find a linear relationship between genetic and geographic distance in a worldwide sample of human populations, with major deviations from the fitted line explicable by admixture or extreme isolation. A close relationship is shown to exist between the correlation of geographic distance and genetic differentiation (as measured by F(ST)) and the geographic pattern of heterozygosity across populations. Considering a worldwide set of geographic locations as possible sources of the human expansion, we find that heterozygosities in the globally distributed populations of the data set are best explained by an expansion originating in Africa and that no geographic origin outside of Africa accounts as well for the observed patterns of genetic diversity. Although the relationship between F(ST) and geographic distance has been interpreted in the past as the result of an equilibrium model of drift and dispersal, simulation shows that the geographic pattern of heterozygosities in this data set is consistent with a model of a serial founder effect starting at a single origin. Given this serial-founder scenario, the relationship between genetic and geographic distance allows us to derive bounds for the effects of drift and natural selection on human genetic variation.

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DOI: 10.1073/pnas.0507611102

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