title: Genomic variation in seven Khoe-San groups reveals adaptation and complex African history.
abstract: The history of click-speaking Khoe-San, and African populations in general, remains poorly understood. We genotyped ~2.3 million single-nucleotide polymorphisms in 220 southern Africans and found that the Khoe-San diverged from other populations ≥100,000 years ago, but population structure within the Khoe-San dated back to about 35,000 years ago. Genetic variation in various sub-Saharan populations did not localize the origin of modern humans to a single geographic region within Africa; instead, it indicated a history of admixture and stratification. We found evidence of adaptation targeting muscle function and immune response; potential adaptive introgression of protection from ultraviolet light; and selection predating modern human diversification, involving skeletal and neurological development. These new findings illustrate the importance of African genomic diversity in understanding human evolutionary history.
authors.affiliation: Department of Evolutionary Biology, Uppsala University, Norbyvägen 18D, 752 36 Uppsala, Sweden. carina.schlebusch@ebc.uu.se
authors.forename: Carina M
authors.initials: CM
authors.lastname: Schlebusch
authors.forename: Pontus
authors.initials: P
authors.lastname: Skoglund
authors.forename: Per
authors.initials: P
authors.lastname: Sjödin
authors.forename: Lucie M
authors.initials: LM
authors.lastname: Gattepaille
authors.forename: Dena
authors.initials: D
authors.lastname: Hernandez
authors.forename: Flora
authors.initials: F
authors.lastname: Jay
authors.forename: Sen
authors.initials: S
authors.lastname: Li
authors.forename: Michael
authors.initials: M
authors.lastname: De Jongh
authors.forename: Andrew
authors.initials: A
authors.lastname: Singleton
authors.forename: Michael G B
authors.initials: MG
authors.lastname: Blum
authors.forename: Himla
authors.initials: H
authors.lastname: Soodyall
authors.forename: Mattias
authors.initials: M
authors.lastname: Jakobsson
mesh_terms: D000220:Adaptation, Biological / Q000235:genetics*; D000818:Animals; D005075:Biological Evolution; D044383:Black People / Q000235:genetics*; D001902:Botswana; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D015894:Genome, Human / Q000235:genetics*; D023281:Genomics; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D018482:Muscle, Skeletal / Q000502:physiology; D002679:Pan troglodytes; D020641:Polymorphism, Single Nucleotide; D011153:Population / Q000235:genetics*