An Unexpectedly Complex Architecture for Skin Pigmentation in Africans. Martin, A. R., Lin, M., Granka, J. M., Myrick, J. W., Liu, X., Sockell, A., Atkinson, E. G., Werely, C. J., Möller, M., Sandhu, M. S., Kingsley, D. M., Hoal, E. G., Liu, X., Daly, M. J., Feldman, M. W., Gignoux, C. R., Bustamante, C. D., & Henn, B. M. Cell, 171(6):1340–1353.e14, November, 2017. doi abstract bibtex 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.
@article{martin_unexpectedly_2017,
title = {An {Unexpectedly} {Complex} {Architecture} for {Skin} {Pigmentation} in {Africans}},
volume = {171},
issn = {1097-4172},
doi = {10.1016/j.cell.2017.11.015},
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.},
language = {eng},
number = {6},
journal = {Cell},
author = {Martin, Alicia R. and Lin, Meng and Granka, Julie M. and Myrick, Justin W. and Liu, Xiaomin and Sockell, Alexandra and Atkinson, Elizabeth G. and Werely, Cedric J. and Möller, Marlo and Sandhu, Manjinder S. and Kingsley, David M. and Hoal, Eileen G. and Liu, Xiao and Daly, Mark J. and Feldman, Marcus W. and Gignoux, Christopher R. and Bustamante, Carlos D. and Henn, Brenna M.},
month = nov,
year = {2017},
pmid = {29195075},
keywords = {Africa, African Continental Ancestry Group, Humans, Polymorphism, Single Nucleotide, Skin Pigmentation, heritability, human evolution, pigmentation, population genetics},
pages = {1340--1353.e14},
}
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