An Unexpectedly Complex Architecture for Skin Pigmentation in Africans.

Cell
Authors
Keywords
Abstract

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.

Year of Publication
2017
Journal
Cell
Volume
171
Issue
6
Pages
1340-1353.e14
Date Published
2017 Nov 30
ISSN
1097-4172
DOI
10.1016/j.cell.2017.11.015
PubMed ID
29195075
PubMed Central ID
PMC5884124
Links
Grant list
MR/K013491/1 / Medical Research Council / United Kingdom
P30 AG017253 / AG / NIA NIH HHS / United States
T32 GM007790 / GM / NIGMS NIH HHS / United States
T32 HG000044 / HG / NHGRI NIH HHS / United States