ArticleProceedings of the National Academy of Sciences of the United States of America2021
The evolution of skin pigmentation-associated variation in West Eurasia.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed, 72 citations in OpenAlex.
- Ancient DNA and Human Physiology.Physiology (Bethesda, Md.) · 2026Review
- Genomic insights into natural selection in recent human history.Nature reviews. Genetics · 2026Review
- Ancient DNA as a temporal lens: reconstructing evolution, migration, and disease dynamics.Journal, genetic engineering & biotechnology · 2026Review
- Local ancestry inference identifies robust evidence of selection in Neolithic Europe.Molecular biology and evolution · 2026Article
- Article
- Haplotype-Based Models Improve Sweep Detection in Ancient Populations with Complex Demography.bioRxiv : the preprint server for biology · 2026Article
- Insights into human adaptation from ancient DNA.Nature genetics · 2026Review
- Robust imputation-based method for eye, hair, and skin colour prediction from low-coverage ancient DNA.Scientific reports · 2026Article
- From Sunlight to Signaling: Evolutionary Integration of Vitamin D and Sterol Metabolism.Metabolites · 2026Review
- Global patterns of natural selection inferred using ancient DNA.bioRxiv : the preprint server for biology · 2026Article
- The genetic architecture of human skin pigmentation: evolution and adaptation across global populations.Frontiers in genetics · 2026Review
- Polygenic prediction of human complex traits using ancient DNA.Current opinion in genetics & development · 2025Review
- A novel expectation-maximization approach to infer general diploid selection from time-series genetic data.PLoS genetics · 2025Article
- A novel expectation-maximization approach to infer general diploid selection from time-series genetic data.bioRxiv : the preprint server for biology · 2025Article
- Assessment of the Influence of UVR in Cutaneous Melanoma.Photodermatology, photoimmunology & photomedicine · 2025Review
- Interpreting SNP heritability in admixed populations.bioRxiv : the preprint server for biology · 2025Article
- Whole methylomes reveal high-altitude-associated methylation at hypoxia and pigmentation genes in South American Indigenous populations.Environmental epigenetics · 2025Article
- Leveraging ancient DNA to uncover signals of natural selection in Europe lost due to admixture or drift.Nature communications · 2024Article
- Ancestral genetic components are consistently associated with the complex trait landscape in European biobanks.European journal of human genetics : EJHG · 2024Article
- Pervasive findings of directional selection realize the promise of ancient DNA to elucidate human adaptation.bioRxiv : the preprint server for biology · 2024Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
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
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.