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Summary
The remarkable genetic diversity within African populations is both a signature and a storybook of human origins because descendants of the earliest humans who lived in Africa nearly 200,000 years ago have had the longest time to accumulate genetic variation. Although studying genetic diversity in African populations tells us a great deal about human history, there is even more to learn by juxtaposing the genetic diversity with the diversity of heritable traits (phenotypes). Yet, there is a paucity of such studies involving continental Africans (1). On page 887 of this issue, Crawford et al. (2) demonstrate the potential insights that can come from ameliorating this disparity. They examined skin color variation in 2000 African individuals from different geographic locations and ethnic groups; the range, from light-skinned San hunter-gatherer populations in southern Africa to dark-skinned pastoralist populations in eastern Africa, far exceeds pigmentary diversity anywhere else on the planet (see the figure). Using a genome-wide association study (GWAS) that includes 1600 individuals living in Tanzania, Botswana, or Ethiopia, the authors identified regions of the genome that contribute to skin color variation and carried out a series of analyses to pinpoint the responsible genes.
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