Cell
Volume 171, Issue 6, 30 November 2017, Pages 1340-1353.e14
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Article
An Unexpectedly Complex Architecture for Skin Pigmentation in Africans

https://doi.org/10.1016/j.cell.2017.11.015Get rights and content
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Highlights

  • Skin pigmentation in Africans is far more polygenic than light skin in Eurasians

  • Southern African KhoeSan populations have lighter skin compared to equatorial Africans

  • Highly heritable KhoeSan skin color variation is poorly explained by known genes

  • The study of African skin color identifies novel and canonical pigmentation genes

Summary

Approximately 15 genes have been directly associated with skin pigmentation variation in humans, leading to its characterization as a relatively simple trait. However, by assembling a global survey of quantitative skin pigmentation phenotypes, we demonstrate that pigmentation is more complex than previously assumed, with genetic architecture varying by latitude. We investigate polygenicity in the KhoeSan populations indigenous to southern Africa who have considerably lighter skin than equatorial Africans. We demonstrate that skin pigmentation is highly heritable, but known pigmentation loci explain only a small fraction of the variance. Rather, baseline skin pigmentation is a complex, polygenic trait in the KhoeSan. Despite this, we identify canonical and non-canonical skin pigmentation loci, including near SLC24A5, TYRP1, SMARCA2/VLDLR, and SNX13, using a genome-wide association approach complemented by targeted resequencing. By considering diverse, under-studied African populations, we show how the architecture of skin pigmentation can vary across humans subject to different local evolutionary pressures.

Keywords

pigmentation
human evolution
Africa
heritability
population genetics

Cited by (0)

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Present address: Colorado Center for Personalized Medicine and Department of Biostatistics and Informatics, University of Colorado, Anschutz Medical Campus, Aurora, CO 80045, USA

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Present address: AncestryDNA, San Francisco, CA 94107, USA

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Lead Contact