| First Author | Candille SI | Year | 2007 |
| Journal | Science | Volume | 318 |
| Issue | 5855 | Pages | 1418-23 |
| PubMed ID | 17947548 | Mgi Jnum | J:127520 |
| Mgi Id | MGI:3763846 | Doi | 10.1126/science.1147880 |
| Citation | Candille SI, et al. (2007) A -defensin mutation causes black coat color in domestic dogs. Science 318(5855):1418-23 |
| abstractText | 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. |
