Sarah Tishkoff and colleagues report the high-coverage whole-genome sequences of 15 African individuals, including 5 males each from 3 different hunter-gatherer populations—Pygmies from Cameroon and Khoesan-speaking Hadza and Sandawe from Tanzania (Cell 150, 457–469, 2012). They obtained whole-genome sequences at >60× coverage and compared them to publicly available whole-genome sequence data for 69 individuals, including 18 from diverse African populations and 51 non-Africans. In total, they identify 13.4 million variants, of which 3 million were not present in a recent 1000 Genomes Project release, expanding the catalog of genetic variation in these diverse populations. The authors compare the African and non-African genomes in population genomics analyses to reconstruct demographic history and identify signatures of selection. Comparing the three hunter-gatherer populations, they find high genetic divergence, despite two being in close geographic proximity. In each of these three populations, the authors identify signatures of local adaption, which reflect different local selective pressures. They also find evidence that these genomes contain low levels of introgressed sequence from an unknown archaic population. The authors identify candidate loci associated with height in Pygmies, in whom short stature is thought to be an adaptation to local environment.
This is a preview of subscription content, access via your institution