Searchable abstracts of presentations at key conferences in endocrinology

ea0011s66 | Disorders of melanocortin receptor functions | ECE2006

MC1R variants: Mendle is quite complex enough

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...