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

SummaryTo 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.

Graphical AbstractFigure optionsDownload high-quality image (216 K)Download as PowerPoint slideHighlights
► 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