Defining the quantitative contribution of the melanocortin 1 receptor (MC1R) to variation in pigmentary phenotype

The melanocortin 1 receptor (MC1R) is a key determinant of pigmentary phenotype. Several sequence variants of the MC1R have been described, many of which are associated with red hair and cutaneous sensitivity to ultraviolet radiation even in the absence of red hair. Red hair approximates to an autosomal recessive trait, and most people with red hair are compound heterozygote or homozygous for limited numbers of mutations that show impaired function in in vitro assays. There is a clear heterozygote effect on sun sensitivity (even in those without red hair) and with susceptibility to the most common forms of skin cancer.