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

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Naruya Saitou

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.

Genetics Topic Attributes

Gene symbols follow the HUGO Gene Nomenclature Committee standard.

Gene Symbol:
MC1R (MC1R: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor))
Type of Human-Specific Changes:
Polymorphism
Related MOCA Topics
Related Topics:
TitleCertainty
Skin PigmentationNone
Referenced By:
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HairlessnessNone
References: 

Robbins L.S., Nadeau J.H., Johnson K.R., Kelly M.A., Roselli-Rehfuss L., Baack E., Mountjoy K.G., and Cone R.D. (1993) Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell, 72: 827–834.

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., and Rees J.L. (2000). Evidence for variable selective pressures at MC1R. American Journal of Human Genetics, 66:1351–1361.