ea0011s66 | Disorders of melanocortin receptor functions | ECE2006
Rees JL
It is ten years since we identified the human melanocortin 1 receptor (MC1R) as the locus that underpins red hair, freckling and sun sensitivity. The MC1R is not the only gene that is important in human pigmentation, but it does seem to play a significant role. A striking aspect of the MC1R is the degree of genetic diversity. I review how a combination of laboratory and genetic epidemiological studies has shown how a single locus, that in some instances behaves c...