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- W2009870793 abstract "Abstract The melanocortin 1 receptor ( MC 1R ) gene encodes for a seven‐pass transmembrane receptor primarily expressed on melanocytes and melanoma cells. Single nucleotide polymorphisms ( SNP s, also termed variants) in MC 1R frequently cause red hair, fair skin and are associated with melanoma and keratinocyte‐derived skin cancer development. Activation of wild‐type ( WT ) MC 1R in skin assists cutaneous photoprotection whereas reduced MC 1R signalling, seen with MC 1R variants, impairs ultraviolet radiation ( UVR )‐protective responses. As ancestral humans migrated out of Africa, the evolutionary advantage of MC 1R variants may have related to improved cutaneous vitamin D synthesis and higher birthweight reported with certain MC 1R variants. Reduced photoprotection secondary to MC 1R dysfunction involves pigmentary and non‐pigmentary mechanisms (reduced DNA repair, effects on cell proliferation and possibly immunological parameters), leading to clonal expansion of mutated cells within skin and subsequent carcinogenesis. Recent investigations suggest an association between MC 1R genotype and vitiligo, with preliminary evidence that a MC 1R agonist, [Nle4‐D‐Phe7]‐alpha‐ MSH , in combination with UVB , assists repigmentation. Future development of compounds to correct defective MC 1R responses secondary to MC 1R variants could result in photoprotective benefits for fair‐skinned individuals and reduce their skin cancer risk." @default.
- W2009870793 created "2016-06-24" @default.
- W2009870793 creator A5013675331 @default.
- W2009870793 creator A5022615794 @default.
- W2009870793 creator A5064669263 @default.
- W2009870793 creator A5081032277 @default.
- W2009870793 date "2014-11-11" @default.
- W2009870793 modified "2023-10-13" @default.
- W2009870793 title "Variants of the melanocortin-1 receptor: do they matter clinically?" @default.
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