DOI: 10.1073/pnas.2009227118
论文题名: The evolution of skin pigmentation-associated variation in West Eurasia
作者: Ju D. ; Mathieson I.
刊名: Proceedings of the National Academy of Sciences of the United States of America
ISSN: 0027-8424
出版年: 2020
卷: 118, 期: 1 语种: 英语
英文关键词: Ancient DNA
; Complex traits
; Evolution
; Polygenic selection
; Skin pigmentation
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. Citation statistics:
资源类型: 期刊论文
标识符: http://119.78.100.158/handle/2HF3EXSE/164384
Appears in Collections: 气候变化与战略
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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
Recommended Citation:
Ju D.,Mathieson I.. The evolution of skin pigmentation-associated variation in West Eurasia[J]. Proceedings of the National Academy of Sciences of the United States of America,2020-01-01,118(1)