Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project

Skin pigmentation is due to the accu-mulation of eumelanin, which is brown-black pigment and photo- protective, and pheomelanin, which is yellow-red pigment and may promote carcinogenesis (Valverde et al., 1995). The melanocortin-1 receptor (MC1R) gene regulates the amount and type of pigment production and is a major determinant of skin prototype. Binding of a-melanocyte stimulating hormone to MC1R stimulates the enzymatic activity of adenylate cyclase enzyme, thereby elevating intracellular cyclic adenosine monophosphate (cAMP) levels. MC1R is highly polymorphic, especially in Caucasians: more than 200 coding region variants have been described to date