title: Evolutionary history and adaptation from high-coverage whole-genome sequences of diverse African hunter-gatherers.
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.
authors: Department of Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.
authors: Joseph
authors: J
authors: Lachance
authors: Benjamin
authors: B
authors: Vernot
authors: Clara C
authors: CC
authors: Elbers
authors: Bart
authors: B
authors: Ferwerda
authors: Alain
authors: A
authors: Froment
authors: Jean-Marie
authors: JM
authors: Bodo
authors: Godfrey
authors: G
authors: Lema
authors: Wenqing
authors: W
authors: Fu
authors: Thomas B
authors: TB
authors: Nyambo
authors: Timothy R
authors: TR
authors: Rebbeck
authors: Kun
authors: K
authors: Zhang
authors: Joshua M
authors: JM
authors: Akey
authors: Sarah A
authors: SA
authors: Tishkoff
mesh_terms: D044383:Black People / Q000235:genetics*; D019143:Evolution, Molecular; D005826:Genetics, Medical; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing; D006802:Human Activities; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA