Evolutionary history and adaptation from high-coverage whole-genome sequences of diverse African hunter-gatherers

Lachance, Joseph; Vernot, Benjamin; Elbers, Clara C.; Ferwerda, Bart; Froment, Alain; Bodo, Jean-Marie; Lema, Godfrey; Fu, Wenqing; Nyambo, Thomas B.; Rebbeck, Timothy R.; Zhang, Kun; Akey, Joshua M.; Tishkoff, Sarah A.

doi:10.1016/j.cell.2012.07.009

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Evolutionary history and adaptation from high-coverage whole-genome sequences of diverse African hunter-gatherers

Published Date:

Jul 26 2012

Publisher's site:

http://dx.doi.org/10.1016/j.cell.2012.07.009 New Site Icon

Source:

Cell. 2012; 150(3):457-469.

[PDF-1.79 MB]

Details:

Personal Authors:

Lachance, Joseph ; Vernot, Benjamin ; Elbers, Clara C. ; Ferwerda, Bart ; Froment, Alain ; ... More ▼

Keywords:

[+]

Pubmed ID:

22840920

Pubmed Central ID:

PMC3426505

Description:

To reconstruct modern human evolutionary history and identify loci that have shaped hunter-gatherer adaptation, we sequenced the whole genomes of five individuals in each of three different hunter-gatherer populations at > 60× coverage: Pygmies from Cameroon and Khoesan-speaking Hadza and Sandawe from Tanzania. We identify 13.4 million variants, substantially increasing the set of known human variation. We found evidence of archaic introgression in all three populations, and the distribution of time to most recent common ancestors from these regions is similar to that observed for introgressed regions in Europeans. Additionally, we identify numerous loci that harbor signatures of local adaptation, including genes involved in immunity, metabolism, olfactory and taste perception, reproduction, and wound healing. Within the Pygmy population, we identify multiple highly differentiated loci that play a role in growth and anterior pituitary function and are associated with height.

Document Type:

Journal Article

Collection(s):

CDC Public Access

Funding:

8 DP1 ES022557-04/DP/NCCDPHP CDC HHS/United States
DP1 ES022577/ES/NIEHS NIH HHS/United States
F32 HG006648/HG/NHGRI NIH HHS/United States
F32HG006648-01/HG/NHGRI NIH HHS/United States
P30 ES013508/ES/NIEHS NIH HHS/United States
P30-ES013508-07/ES/NIEHS NIH HHS/United States
R01 GM076637/GM/NIGMS NIH HHS/United States
R01GM076637/GM/NIGMS NIH HHS/United States

Supporting Files:

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