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The evolution of skin pigmentation-associated variation in West Eurasia
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The evolution of skin pigmentation-associated variation in West Eurasia
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Journal Article
The evolution of skin pigmentation-associated variation in West Eurasia
2021
Overview
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 pigmentation-associated 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.
Publisher
National Academy of Sciences
Subject
/ Asia
/ Asian Continental Ancestry Group - genetics
/ Biobanks
/ DNA
/ Europe
/ European Continental Ancestry Group - genetics
/ Genome-wide association studies
/ Genome-Wide Association Study - methods
/ Genomes
/ Genotype
/ Humans
/ Multifactorial Inheritance - genetics
/ Polymorphism, Single Nucleotide - genetics
/ Selection, Genetic - genetics
/ Skin
/ Skin Pigmentation - genetics
