气候变化领域集成服务门户(CCPortal): The evolution of skin pigmentation-associated variation in West Eurasia

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DOI	10.1073/pnas.2009227118
	The evolution of skin pigmentation-associated variation in West Eurasia
	Ju D.; Mathieson I.
发表日期	2020
ISSN	0027-8424
卷号	118 期号:1
英文摘要	Skin pigmentation is a classic example of a polygenic trait that has experienced directional selection in humans. Genome-wide association studies have identified well over a hundred pigmentationassociated loci, and genomic scans in present-day and ancient populations have identified selective sweeps for a small number of light pigmentation-associated alleles in Europeans. It is unclear whether selection has operated on all of the genetic variation associated with skin pigmentation as opposed to just a small number of large-effect variants. Here, we address this question using ancient DNA from 1,158 individuals from West Eurasia covering a period of 40,000 y combined with genome-wide association summary statistics from the UK Biobank. We find a robust signal of directional selection in ancient West Eurasians on 170 skin pigmentation-associated variants ascertained in the UK Biobank. However, we also show that this signal is driven by a limited number of large-effect variants. Consistent with this observation, we find that a polygenic selection test in present-day populations fails to detect selection with the full set of variants. Our data allow us to disentangle the effects of admixture and selection. Most notably, a large-effect variant at SLC24A5 was introduced to Western Europe by migrations of Neolithic farming populations but continued to be under selection post-admixture. This study shows that the response to selection for light skin pigmentation in West Eurasia was driven by a relatively small proportion of the variants that are associated with present-day phenotypic variation. © 2021 National Academy of Sciences. All rights reserved.
英文关键词	Ancient DNA; Complex traits; Evolution; Polygenic selection; Skin pigmentation
语种	英语
来源期刊	Proceedings of the National Academy of Sciences of the United States of America
文献类型	期刊论文
条目标识符	http://gcip.llas.ac.cn/handle/2XKMVOVA/161107
作者单位	Ju, D., Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States; Mathieson, I., Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States
推荐引用方式 GB/T 7714	Ju D.,Mathieson I.. The evolution of skin pigmentation-associated variation in West Eurasia[J],2020,118(1).
APA	Ju D.,&Mathieson I..(2020).The evolution of skin pigmentation-associated variation in West Eurasia.Proceedings of the National Academy of Sciences of the United States of America,118(1).
MLA	Ju D.,et al."The evolution of skin pigmentation-associated variation in West Eurasia".Proceedings of the National Academy of Sciences of the United States of America 118.1(2020).