
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.
Receptors, Corticotropin/genetics, Asia, Mutation/genetics, Haplotypes/genetics, Molecular Sequence Data, 610, Black People, Genetics, Humans, Genetics(clinical), Amino Acid Substitution/genetics, Amino Acid Sequence, Selection, Genetic, Polymorphism, Genetic/genetics, Phylogeny, Melanins/genetics, Melanins, Likelihood Functions, Polymorphism, Genetic, Base Sequence, Models, Genetic, Pigmentation, Pigmentation/genetics, Receptors, Melanocortin, African Continental Ancestry Group/genetics, Receptors, Corticotropin/physiology, Genetic Variation, Europe, Genetic Variation/genetics, Amino Acid Substitution, Haplotypes, Receptors, Corticotropin, Africa, Mutation, Receptors, Corticotropin/chemistry
Receptors, Corticotropin/genetics, Asia, Mutation/genetics, Haplotypes/genetics, Molecular Sequence Data, 610, Black People, Genetics, Humans, Genetics(clinical), Amino Acid Substitution/genetics, Amino Acid Sequence, Selection, Genetic, Polymorphism, Genetic/genetics, Phylogeny, Melanins/genetics, Melanins, Likelihood Functions, Polymorphism, Genetic, Base Sequence, Models, Genetic, Pigmentation, Pigmentation/genetics, Receptors, Melanocortin, African Continental Ancestry Group/genetics, Receptors, Corticotropin/physiology, Genetic Variation, Europe, Genetic Variation/genetics, Amino Acid Substitution, Haplotypes, Receptors, Corticotropin, Africa, Mutation, Receptors, Corticotropin/chemistry
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