期刊
CELL
卷 150, 期 3, 页码 457-469出版社
CELL PRESS
DOI: 10.1016/j.cell.2012.07.009
关键词
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资金
- NSF [BCS-0827436]
- NIH [R01GM076637, 8 DP1 ES022577-04]
- NIH NRSA postdoctoral fellowship [F32HG006648-01]
- Netherlands Organization of Scientific Research
- Center of Excellence in Environmental Toxicology at the University of Pennsylvania [P30-ES013508-07]
- Division Of Behavioral and Cognitive Sci
- Direct For Social, Behav & Economic Scie [0827436] Funding Source: National Science Foundation
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 >60x 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 intro-gression 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.
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