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

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Makova, Kateryna; Norton, Heather
Year of Publication: 2005
Journal: Peptides
Volume: 26
Issue: 10
Pagination: 1901-8
Date Published: 2005 Oct
Publication Language: eng
ISSN: 0196-9781
Keywords: Africa, Animals, Asia, Europe, Genetic Markers, Genetic Variation, Humans, Polymorphism, Genetic, Receptor, Melanocortin, Type 1, Skin Pigmentation

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.

DOI: 10.1016/j.peptides.2004.12.032
Alternate Journal: Peptides
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