Genomic variation in seven Khoe-San groups reveals adaptation and complex African history.

Carina M Schlebusch , Pontus Skoglund , Per Sjödin , Lucie M Gattepaille , Dena Hernandez , Flora Jay (1) , Sen Li , Michael de Jongh , Andrew Singleton (2) , Michael G B Blum (1) , Himla Soodyall , Mattias Jakobsson (3)

1 TIMC-IMAG-BCM - Biologie Computationnelle et Mathématique
2 Department of Clinical Genetics
3 Evolutionary Biology

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.

Domaines: Génétique des populations [q-bio.PE]

Carina M Schlebusch, Pontus Skoglund, Per Sjödin, Lucie M Gattepaille, Dena Hernandez, et al.. Genomic variation in seven Khoe-San groups reveals adaptation and complex African history.. Science, 2012, 338 (6105), pp.374-9. ⟨10.1126/science.1227721⟩. ⟨hal-00775886⟩