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Genotyping by array of genomic variation in seven Khoe-San groups to reveal 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 SNPs in 220 southern Africans and found that the Khoe-San diverged from other populations at least 100,000 years ago, but 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 UV-light protection, 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 .220 samples were analysed with the Illumina HumanOmni2.5-Quad BeadChip and are described herein.

ORGANISM(S): Homo sapiens

SUBMITTER: Carina Schlebusch 

PROVIDER: E-MTAB-1259 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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

Schlebusch Carina M CM   Skoglund Pontus P   Sjödin Per P   Gattepaille Lucie M LM   Hernandez Dena D   Jay Flora F   Li Sen S   De Jongh Michael M   Singleton Andrew A   Blum Michael G B MG   Soodyall Himla H   Jakobsson Mattias M  

Science (New York, N.Y.) 20120920 6105


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,  ...[more]

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