Biology

Variations in the Mammalian Melanocyte-Stimulating Hormone Receptor

1. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. P. Valverde, E. Healy, I Jackson, J.L. Rees and A.J. Thody. Nature Genetics 11: 328-330, 1995

2. A missense mutation in the gene for melanocyte-stimulating hormone receptor (MC1R) is associated with the chestnut coat color in horses. Marklund L, Moller MJ, Sandberg K, Andersson L.  Mamm Genome 7: 895-899, 1996

3. High polymorphism at the human melanocortin 1 receptor locus. B K Rana, D Hewett-Emmett, L Jin, B H Chang, N Sambuughin, M Lin, S Watkins, M Bamshad, L B Jorde, M Ramsay, T Jenkins, and W H Li. Genetics 151: 1547–1557, 1999

4. Identification of a premature stop codon in the melanocyte-stimulating hormone receptor gene (MC1R) in Labrador and Golden retrievers with yellow coat colour. Everts RE, Rothuizen J, van Oost BA. Anim Genet 31: 194-199, 2000

5. Evidence for variable selective pressures at MC1R. Harding RM, Healy E, Ray AJ, Ellis NS, Flanagan N, Todd C, Dixon C, Sajantila A, Jackson IJ, Birch-Machin MA, Rees JL. Am J Hum Genet. 66: 1351-1361, 2000

6. Loss-of-function variants of the human melanocortin-1 receptor gene in melanoma cells define structural determinants of receptor function. J.S. Más, C.O. Sánchez, G. Ghanem, J. Haycock, J.A.L. Teruel, J.C. García-Borrớn & C. Jiménez-Cervantes. Eur. J. Biochem. 269: 6133-6141, 2002

7. Skin deep. Jablonski, NG and Chaplin, G. Scientific American 287: 74-81, 2002

8. A single amino acid mutation contributes to adaptive beach mouse color pattern. Hoekstra HE, Hirschmann RJ, Bundey RA, Insel PA, Crossland JP. Science 313(5783): 101-104, 2006

9. Melanocyte biology and skin pigmentation. Lin JY, Fisher DE. Nature 445: 843-850, 2007

10. The naked truth. NG Jablonski. Scientific American 302: 42-49, 2010

 

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