title: The relation between melanocortin 1 receptor (MC1R) variation and the generation of phenotypic diversity in the cutaneous response to ultraviolet radiation.
abstract: 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.
authors.affiliation: Systems Group, Dermatology, University of Edinburgh, Room 4.018, First Floor, The Lauriston Building, Lauriston Place, Edinburgh EH3 9HA, UK.
authors.forename: Terence Hawkin
authors.initials: TH
authors.lastname: Wong
authors.forename: Jonathan Laurence
authors.initials: JL
authors.lastname: Rees
mesh_terms: 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
chemical_list: D044102:Receptor, Melanocortin, Type 1