Genetic analysis of mammalian color variation has provided fundamental insight into human biology and disease. In most vertebrates, two key genes, Agouti and Melanocortin 1 receptor (Mc1r), encode a ligand-receptor system that controls pigment type-switching, but in domestic dogs, a third gene is implicated, the K locus, whose genetic characteristics predict a previously unrecognized component of the melanocortin pathway. We identify the K locus as beta-defensin 103 (CBD103) and show that its protein product binds with high affinity to the Mc1r and has a simple and strong effect on pigment type-switching in domestic dogs and transgenic mice. These results expand the functional role of beta-defensins, a protein family previously implicated in innate immunity, and identify an additional class of ligands for signaling through melanocortin receptors.

Url / Doi : http://www.sciencemag.org/cgi/content/abstract/318/5855/1418

Localisation : Env Alfort (Bibliothèque) ; En ligne

Volume : 318(5855) : 1418-1423

Collection : Génétique Moléculaire

N° de collection : Session 2008-2009

Type de fond : Fonds dématérialisé

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