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Evolutionary history and adaptation from high-coverage whole-genome sequences of diverse african hunter-gatherers |
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| Authors: | 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 |
| Affiliation: | 1 Departments of Biology and Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA 2 Perelman School of Medicine Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104, USA 3 Department of Genome Sciences, University of Washington, Seattle, WA 98185, USA 4 IRD-MNHN, Musée de l'Homme, 75116 Paris, France 5 Ministère de la Recherche Scientifique et de l'Innovation, BP1457 Yaoundé, Cameroon 6 Department of Biochemistry, Muhimbili University College of Health Sciences, Dar es Salaam, Tanzania 7 Department of Bioengineering, Institute for Genomic Medicine and Institute of Engineering in Medicine, University of California, San Diego, San Diego, CA 92093, USA |
| Abstract: | 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. |
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