Cited by 177Forensic and Genetic ResearchGenetic diversity and population structurePleistocene-Era Hominins and Archaeology

Explaining worldwide patterns of human genetic variation using a coalescent-based serial founder model of migration outward from Africa

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DeGiorgio, Michael, Jakobsson, Mattias, Rosenberg, Noah A.·2009·Proceedings of the National Academy of Sciences

Abstract

Studies of worldwide human variation have discovered three trends in summary statistics as a function of increasing geographic distance from East Africa: a decrease in heterozygosity, an increase in linkage disequilibrium (LD), and a decrease in the slope of the ancestral allele frequency spectrum. Forward simulations of unlinked loci have shown that the decline in heterozygosity can be described by a serial founder model, in which populations migrate outward from Africa through a process where each of a series of populations is formed from a subset of the previous population in the outward expansion. Here, we extend this approach by developing a retrospective coalescent-based serial founder model that incorporates linked loci. Our model both recovers the observed decline in heterozygosity with increasing distance from Africa and produces the patterns observed in LD and the ancestral allele frequency spectrum. Surprisingly, although migration between neighboring populations and limited admixture between modern and archaic humans can be accommodated in the model while continuing to explain the three trends, a competing model in which a wave of outward modern human migration expands into a series of preexisting archaic populations produces nearly opposite patterns to those observed in the data. We conclude by developing a simpler model to illustrate that the feature that permits the serial founder model but not the archaic persistence model to explain the three trends observed with increasing distance from Africa is its incorporation of a cumulative effect of genetic drift as humans colonized the world.

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Crossref · 10.1073/pnas.0903341106

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  • Non-African populations have decreased genetic diversity as a result of bottlenecks that occurred as humans moved into Eurasia, Oceania, and the Americas.

    “The increased variant count in African populations is consistent with the out-of-Africa model of human migration across the world, as well as the decreased genetic diversity in non-African populations as a result of the bottlenecks that occurred as humans moved into Eurasia, Oceania, and the Americas (Ramachandran et al. 2005; DeGiorgio et al. 2009; Li and Durbin 2011).”

    From The Impact of Modern Admixture on Archaic Human Ancestry in Human Populations (2023) · cites this paper as DeGiorgio et al. 2009

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Authors
DeGiorgio, M., Jakobsson, M., & Rosenberg, N. A.
Affiliations
  • Center for Computational Medicine and Bioinformatics and
  • Uppsala University (SE)
  • University of Michigan (US)
Venue
Proceedings of the National Academy of Sciences
Published
2009-09-22
Volume
106
Issue
38
Pages
16057-16062
ISSN
  • 0027-8424 (ISSN-L)
  • 1091-6490
OpenAlex
W2157535960
Cited by
175
References
32
Citations by year
2026: 6 · 2025: 3 · 2024: 2 · 2023: 8 · 2022: 14 · 2021: 14 · 2020: 8 · 2019: 11 · 2018: 7 · 2017: 4 · 2016: 8 · 2015: 17 · 2014: 15 · 2013: 19 · 2012: 14
FWCI
7.60
Type
journal article
Language
en
Open access
Locations
  • Proceedings of the National Academy of Sciences (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • Alfred P. Sloan Foundation
  • Svenska Forskningsrådet Formas
  • Vetenskapsrådet
  • National Institutes of Health
  • National Human Genome Research Institute (T32HG000040)
  • National Institute of General Medical Sciences (T32GM070449, R01GM081441)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
  • Social Sciences › Anthropology › Pleistocene-Era Hominins and Archaeology
Keywords
human genetic variation, coalescent, heterozygosity, linkage disequilibrium, allele frequency spectrum, genetic drift, archaic human admixture, East Africa
MeSH terms
Africa, Animals, Anthropology, Physical, Biological Evolution, Fossils, Genetics, Population, Heterozygote, Humans, Models, Genetic, Population Dynamics, Genetic Variation, Hominidae, Linkage Disequilibrium, Founder Effect, Evolution, Molecular

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