Allelic heterogeneity at the equine KIT locus in dominant white (W) horses |
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| Authors: | Haase Bianca Brooks Samantha A Schlumbaum Angela Azor Pedro J Bailey Ernest Alaeddine Ferial Mevissen Meike Burger Dominik Poncet Pierre-André Rieder Stefan Leeb Tosso |
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| Affiliation: | Bianca Haase, Samantha A Brooks, Angela Schlumbaum, Pedro J Azor, Ernest Bailey, Ferial Alaeddine, Meike Mevissen, Dominik Burger, Pierre-André Poncet, Stefan Rieder, and Tosso Leeb |
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| Abstract: | 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 in horses. It shows considerable phenotypic variation, ranging from ~50% depigmented areas up to a completely white coat. In the horse, the four depigmentation phenotypes roan, sabino, tobiano, and dominant white were independently mapped to a chromosomal region on ECA 3 harboring the KIT gene. KIT plays an important role in melanoblast survival during embryonic development. We determined the sequence and genomic organization of the ~82 kb equine KIT gene. A mutation analysis of all 21 KIT exons in white Franches-Montagnes Horses revealed a nonsense mutation in exon 15 (c.2151C>G, p.Y717X). We analyzed the KIT exons in horses characterized as dominant white from other populations and found three additional candidate causative mutations. Three almost completely white Arabians carried a different nonsense mutation in exon 4 (c.706A>T, p.K236X). Six Camarillo White Horses had a missense mutation in exon 12 (c.1805C>T, p.A602V), and five white Thoroughbreds had yet another missense mutation in exon 13 (c.1960G>A, p.G654R). Our results indicate that the dominant white color in Franches-Montagnes Horses is caused by a nonsense mutation in the KIT gene and that multiple independent mutations within this gene appear to be responsible for dominant white in several other modern horse populations. |
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