Worldwide polymorphism at the MC1R locus and normal pigmentation variation in humans

Kateryna Makova, Heather Norton

Research output: Contribution to journalReview articlepeer-review

69 Scopus citations

Abstract

While there have been many advances in our understanding of the genetics of pathological skin pigmentation in humans, our knowledge about what determines variation in normal skin color is still incomplete. Variation in one gene, melanocortin 1 receptor (MC1R), has been associated with red hair and fair skin in Europeans. However, this gene might also play an important role in shaping pigmentation of other human populations, where it experiences different selective pressures. Below we review what is currently known about polymorphism and selection at the MC1R coding and promoter regions in human populations, the pattern of MC1R evolution in nonhuman primates, and the interaction of MC1R with other genes.

Original languageEnglish (US)
Pages (from-to)1901-1908
Number of pages8
JournalPeptides
Volume26
Issue number10
DOIs
StatePublished - Oct 2005

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Physiology
  • Endocrinology
  • Cellular and Molecular Neuroscience

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