A golden clue to human skin colour variation

Abstract

Variations in human skin pigmentation are obvious, but how have skin colour differences evolved? Although clearly a polymorphic trait, the number and identity of key variants has remained unclear. Investigation of pigmentation phenotypes in model organisms provides a route to identify these genes and showed MC1R to be one key locus. Now, cloning of a classic zebrafish mutant, golden, identifies slc24a5 as a gene involved in fish skin pigmentation.1 Strikingly this study identifies the human orthologue, SLC24A5, as likely to make a major contribution to the pale skin colouration of Western Europeans.