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Genetic evidence for archaic admixture in Africa
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Genetic evidence for archaic admixture in Africa

  1. Jeffrey D. Walld
  1. aArizona Research Laboratories Division of Biotechnology,
  2. bDepartment of Ecology and Evolutionary Biology, and
  3. cMathematics Department, University of Arizona, Tucson, AZ 85721; and
  4. dInstitute for Human Genetics, University of California, San Francisco, CA 94143
  1. Edited by Ofer Bar-Yosef, Harvard University, Cambridge, MA, and approved July 27, 2011 (received for review June 13, 2011)

Abstract

A long-debated question concerns the fate of archaic forms of the genus Homo: did they go extinct without interbreeding with anatomically modern humans, or are their genes present in contemporary populations? This question is typically focused on the genetic contribution of archaic forms outside of Africa. Here we use DNA sequence data gathered from 61 noncoding autosomal regions in a sample of three sub-Saharan African populations (Mandenka, Biaka, and San) to test models of African archaic admixture. We use two complementary approximate-likelihood approaches and a model of human evolution that involves recent population structure, with and without gene flow from an archaic population. Extensive simulation results reject the null model of no admixture and allow us to infer that contemporary African populations contain a small proportion of genetic material (≈2%) that introgressed ≈35 kya from an archaic population that split from the ancestors of anatomically modern humans ≈700 kya. Three candidate regions showing deep haplotype divergence, unusual patterns of linkage disequilibrium, and small basal clade size are identified and the distributions of introgressive haplotypes surveyed in a sample of populations from across sub-Saharan Africa. One candidate locus with an unusual segment of DNA that extends for >31 kb on chromosome 4 seems to have introgressed into modern Africans from a now-extinct taxon that may have lived in central Africa. Taken together our results suggest that polymorphisms present in extant populations introgressed via relatively recent interbreeding with hominin forms that diverged from the ancestors of modern humans in the Lower-Middle Pleistocene.

Footnotes

  • 1To whom correspondence should be addressed. E-mail: mfh{at}email.arizona.edu.
  • Author contributions: M.F.H., A.E.W., F.L.M., J.C.W., and J.D.W. designed research; A.E.W. and J.D.W. performed research; A.E.W., F.L.M., J.C.W., and J.D.W. analyzed data; and M.F.H., A.E.W., F.L.M., J.C.W., and J.D.W. wrote the paper.

  • The authors declare no conflict of interest.

  • This article is a PNAS Direct Submission.

  • This article contains supporting information online at www.pnas.org/lookup/suppl/doi:10.1073/pnas.1109300108/-/DCSupplemental.

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