作者
Alicia R Martin, Meng Lin, Julie M Granka, Justin W Myrick, Xiaomin Liu, Alexandra Sockell, Elizabeth G Atkinson, Cedric J Werely, Marlo Möller, Manjinder S Sandhu, David M Kingsley, Eileen G Hoal, Xiao Liu, Mark J Daly, Marcus W Feldman, Christopher R Gignoux, Carlos D Bustamante, Brenna M Henn
发表日期
2017/11/30
期刊
Cell
卷号
171
期号
6
页码范围
1340-1353. e14
出版商
Elsevier
简介
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 …
引用总数
201820192020202120222023202426162240281810
学术搜索中的文章