Cell – Evolutionary History and Adaptation from High-Coverage Whole-Genome Sequences of Diverse African Hunter-Gatherers

Evolutionary History and Adaptation from High-Coverage Whole-Genome Sequences of Diverse African Hunter-Gatherers

Authors

Cell, Volume 150, Issue 3, 457-469, 26 July 2012
Copyright © 2012 Elsevier Inc. All rights reserved.
10.1016/j.cell.2012.07.009

Highlights

• 13.4 million variants identified in African hunter-gatherers, many of which are novel
• Evidence of archaic admixture found in the genomes of African hunter-gatherers
• Selection scans implicate loci involved in taste perception, metabolism, and immunity
• Genetic associations with height are found for Pygmy variants located on chromosome 3

Summary

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.

Extended PDF version

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Joseph Lachance, Benjamin Vernot, Clara C. Elbers, Bart Ferwerda, Alain Froment, Jean-Marie Bodo, Godfrey Lema, Wenqing Fu, Thomas B. Nyambo, Timothy R. Rebbeck, Kun Zhang, Joshua M. Akey, & Sarah A. Tishkoff (2012). Evolutionary History and Adaptation from High-Coverage Whole-Genome Sequences of Diverse African Hunter-Gatherers Cell, Volume 150 (Issue 3), 457-469 DOI: 10.1016

 

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Cell – Evolutionary History and Adaptation from High-Coverage Whole-Genome Sequences of Diverse African Hunter-Gatherers.