MC1R (melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) )

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Melanocortin, a pituitary peptide hormone, stimulate melanocytes.  Melanocortin 1 receptor, or MC1R, is G protein-coupled receptor for melanocortin.  Nonfunctional MC1R gene was found to be responsible for mice light pigmentation (Robbins et al., 1993).  Later, Harding et al. (2000) showed that this gene polymorphism is related to pigmentation in human too.

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Gene symbols follow the HUGO Gene Nomenclature Committee standard.
Gene Symbol Type of Human-Specific Changes
MC1R Polymorphism


  1. Evidence for variable selective pressures at MC1R., Harding, R M., Healy E, Ray A J., Ellis N S., Flanagan N, Todd C, Dixon C, Sajantila A, Jackson I J., Birch-Machin M A., et al. , Am J Hum Genet, 2000 Apr, Volume 66, Issue 4, p.1351-61, (2000)
  2. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function., Robbins, L S., Nadeau J H., Johnson K R., Kelly M A., Roselli-Rehfuss L, Baack E, Mountjoy K G., and Cone R D. , Cell, 03/1993, Volume 72, Issue 6, p.827-34, (1993)