Evidence for variable selective pressures at MC1R

Rosalind M. Harding, Eugene Healy, Amanda Ray, N. S. Ellis, Niamh Flanagan, Carole Todd, Craig Dixon, Antti Sajantila, Ian Jackson, Mark A Birch-Machin, Jonathan Rees

Research output: Contribution to journalArticlepeer-review


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.
Original languageEnglish
Pages (from-to)1351-61
Number of pages11
JournalAmerican Journal of Human Genetics
Issue number4
Publication statusPublished - Apr 2000


  • Africa
  • African Continental Ancestry Group/genetics
  • Amino Acid Sequence
  • Amino Acid Substitution/genetics
  • Asia
  • Base Sequence
  • Europe
  • Genetic Variation/genetics
  • Haplotypes/genetics
  • Humans
  • Likelihood Functions
  • Melanins/genetics
  • Models, Genetic
  • Molecular Sequence Data
  • Mutation/genetics
  • Phylogeny
  • Pigmentation/genetics
  • Polymorphism, Genetic/genetics
  • Receptors, Corticotropin/chemistry
  • Receptors, Corticotropin/genetics
  • Receptors, Corticotropin/physiology
  • Receptors, Melanocortin
  • Selection, Genetic

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