ArticlePloS one2013
Global patterns of diversity and selection in human tyrosinase gene.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 33 citations in OpenAlex.
- [Application of HIrisPlex-S System in Forensic DNA Phenotyping].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2025Article
- Association of Genetic Polymorphisms in SLC45A2, TYR, HERC2, and SLC24A in African Women with Melasma: A Pilot Study.International journal of molecular sciences · 2025Article
- Common Variants in theBiomedicines · 2024Article
- Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.American journal of human genetics · 2023Article
- Article
- Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).NPJ genomic medicine · 2022Article
- Baumann Skin Type in the Korean Male Population.Annals of dermatology · 2019Article
- Clinical and genetic variability in children with partial albinism.Scientific reports · 2019Article
- The colours of humanity: the evolution of pigmentation in the human lineage.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2017Review
- Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits.Pigment cell & melanoma research · 2014Article
- Direct evidence for positive selection of skin, hair, and eye pigmentation in Europeans during the last 5,000 y.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
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Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
Abstract
Global variation in skin pigmentation is one of the most striking examples of environmental adaptation in humans. More than two hundred loci have been identified as candidate genes in model organisms and a few tens of these have been found to be significantly associated with human skin pigmentation in genome-wide association studies. However, the evolutionary history of different pigmentation genes is rather complex: some loci have been subjected to strong positive selection, while others evolved under the relaxation of functional constraints in low UV environment. Here we report the results of a global study of the human tyrosinase gene, which is one of the key enzymes in melanin production, to assess the role of its variation in the evolution of skin pigmentation differences among human populations. We observe a higher rate of non-synonymous polymorphisms in the European sample consistent with the relaxation of selective constraints. A similar pattern was previously observed in the MC1R gene and concurs with UV radiation-driven model of skin color evolution by which mutations leading to lower melanin levels and decreased photoprotection are subject to purifying selection at low latitudes while being tolerated or even favored at higher latitudes because they facilitate UV-dependent vitamin D production. Our coalescent date estimates suggest that the non-synonymous variants, which are frequent in Europe and North Africa, are recent and have emerged after the separation of East and West Eurasian populations.
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