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Evidence for variable selective pressures at MC1R

Lookup NU author(s): Dr Eugene Healy, Dr Amanda Ray, Dr Niamh Flanagan, Carole Todd, Professor Mark Birch-MachinORCiD, Professor Jonathan Rees


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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.

Publication metadata

Author(s): Healy E; Todd C; Ray AJ; Flanagan N; Birch-Machin MA; Rees JL; Harding RM; Ellis NS; Dixon C; Sajantila A; Jackson IJ

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2000

Volume: 66

Issue: 4

Pages: 1351-1361

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press


DOI: 10.1086/302863

PubMed id: 10733465


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