Allelic Heterogeneity at the Equine KIT Locus in Dominant White (W) Horses

• DOI: 10.1371/journal.pgen.0030195
• Publication Date: 2007-11-05T23:15:57Z
• Authors: Bianca Haase; Samantha A Brooks; Angela Schlumbaum; Pedro J Azor; Ernest Bailey; Ferial Alaeddine; Meike Mevissen; Dominik Burger; Pierre-André Poncet; Stefan Rieder; Tosso Leeb
• Keywords: Nonsense mutation; White (mutation); Allelic heterogeneity

White coat color has been a highly valued trait in horses for at least 2,000 years. Dominant white (W) is one of several known depigmentation phenotypes horses. It shows considerable phenotypic variation, ranging from ∼50% depigmented areas up to completely coat. In the horse, four roan, sabino, tobiano, and dominant were independently mapped chromosomal region on ECA 3 harboring KIT gene. plays an important role melanoblast survival during embryonic development. We determined sequence genomic organization ∼82 kb equine A mutation analysis all 21 exons Franches-Montagnes Horses revealed nonsense exon 15 (c.2151C>G, p.Y717X). analyzed characterized as other populations found three additional candidate causative mutations. Three almost Arabians carried different 4 (c.706A>T, p.K236X). Six Camarillo had missense 12 (c.1805C>T, p.A602V), five Thoroughbreds yet another 13 (c.1960G>A, p.G654R). Our results indicate that caused by gene multiple independent mutations within this appear be responsible modern horse populations.