ArticleAmerican journal of human genetics2000
Evidence for variable selective pressures at MC1R.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 113 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
113 citing papers in PubMed, 1 synthesis or guideline pooled it, 393 citations in OpenAlex.
- The effects of sunlight exposure on mortality: a systematic review of epidemiological studies.NIHR open research · 2025Pooled it
- Unique Features of Melanoma Risk and Diagnosis in Red-Haired Populations.International journal of molecular sciences · 2026Review
- Novel MC1R variants cause red hair and lighter skin color.HGG advances · 2026Article
- Fast pairwise coalescence enables gene-resolution scans for recent selection in diverse human populations.bioRxiv : the preprint server for biology · 2026Article
- Melanocortin 1 receptor alleviates collagen-induced arthritis by upregulating T helper 1/T helper 17 cells and downregulating regulatory T cells.CytoJournal · 2026Article
- The Genetics and Evolution of Human Pigmentation.Biology · 2025Review
- Assessment of the Influence of UVR in Cutaneous Melanoma.Photodermatology, photoimmunology & photomedicine · 2025Review
- Mitochondrial DNA Genomes Reveal Relaxed Purifying Selection During Human Population Expansion after the Last Glacial Maximum.Molecular biology and evolution · 2024Article
- Thermal Adaptations in Animals: Genes, Development, and Evolution.Advances in experimental medicine and biology · 2024Review
- Domain-adaptive neural networks improve supervised machine learning based on simulated population genetic data.PLoS genetics · 2023Article
- Review
- The journey from melanocytes to melanoma.Nature reviews. Cancer · 2023Review
- Cutaneous Melanoma and Glioblastoma Multiforme Association-Case Presentation and Literature Review.Diagnostics (Basel, Switzerland) · 2023Article
- Article
- Functional divergence of the pigmentation gene melanocortin-1 receptor (MC1R) in six endemic Macaca species on Sulawesi Island.Scientific reports · 2022Article
- Genetic ancestry in precision medicine is reshaping the race debate.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Genetic Connections and Convergent Evolution of Tropical Indigenous Peoples in Asia.Molecular biology and evolution · 2022Article
- Review
- A Deep-Learning Approach for Inference of Selective Sweeps from the Ancestral Recombination Graph.Molecular biology and evolution · 2022Article
- Article
53 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
It is widely assumed that genes that influence variation in skin and hair pigmentation are under selection. To date, the melanocortin 1 receptor (MC1R) is the only gene identified that explains substantial phenotypic variance in human pigmentation. Here we investigate MC1R polymorphism in several populations, for evidence of selection. We conclude that MC1R is under strong functional constraint in Africa, where any diversion from eumelanin production (black pigmentation) appears to be evolutionarily deleterious. Although many of the MC1R amino acid variants observed in non-African populations do affect MC1R function and contribute to high levels of MC1R diversity in Europeans, we found no evidence, in either the magnitude or the patterns of diversity, for its enhancement by selection; rather, our analyses show that levels of MC1R polymorphism simply reflect neutral expectations under relaxation of strong functional constraint outside Africa.
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Registered trials
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.