The relation between melanocortin 1 receptor (MC1R) variation and the generation of phenotypic diversity in the cutaneous response to ultraviolet radiation.
The melanocortin 1 receptor (MC1R) is known to play an important role in determining physiological variation in human pigmentation, and consequently human susceptibility to ultraviolet radiation. A reason for wider interest is that the considerable phenotypic diversity has been in part generated by the effects of gene dosage, and the presence of a large number of mutations at this G-protein coupled receptor that are not functionally equivalent. Thus, a range of mutations at a single receptor locus can lead to a complex range of graded phenotypes.
Wong
Terence Hawkin
TH
Systems Group, Dermatology, University of Edinburgh, Room 4.018, First Floor, The Lauriston Building, Lauriston Place, Edinburgh EH3 9HA, UK.
Rees
Jonathan Laurence
JL
D019943:Amino Acid Substitution / Q000235:genetics; D000818:Animals; D014644:Genetic Variation; D006801:Humans; D010641:Phenotype; D044102:Receptor, Melanocortin, Type 1 / Q000737:chemistry* / Q000235:genetics*; D012867:Skin / Q000378:metabolism* / Q000528:radiation effects*; D012880:Skin Pigmentation / Q000235:genetics / Q000528:radiation effects; D014466:Ultraviolet Rays
D044102:Receptor, Melanocortin, Type 1