Premium
Red hair, fair skin and melanoma – melanocortin 1 receptor
Author(s) -
Rees J. L.,
Waterston K.,
Naysmith L.,
Oh C.,
Hennessy A.,
Bisset Y.,
Diffey B.,
Ito S.,
Wakamatsu K.
Publication year - 2004
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/j.0906-6705.2004.0212g.x
Subject(s) - melanocortin 1 receptor , phenotype , allele , melanoma , skin cancer , dermatology , melanocortin , biology , human skin , melanin , melanocyte , genetics , medicine , cancer , receptor , gene
We have previously shown that the MC1R is a key determinant of pigmentary phenotype in man. A range of common and uncommon alleles show diminished function leading to a change in the relative amounts of eumelanin and pheomelanin. As expected, these particular allelic variants are associated with both non‐melanoma and melanoma skin cancer and other pigmentary phenotypic characteristics such as freckling. We have recently shown that even against very different genetic backgrounds, the MC1R variants show a phenotypic effect [ J Invest Dermatol 2003: 121 (1): 207]. We will present data to explain how the human pigmentary phenotypes can be quantified more appropriately, in terms of both hair melanins and cutaneous response to ultraviolet radiation (submitted and in press). Our results, we would argue, are relevant to those interested in melanocortin signalling in skin and to studies of the genetics of human skin colour and evolution of skin colour.