Allelic Heterogeneity at the Equine KIT Locus in Dominant White (W) Horses
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Autor
Haase, Bianca
Brooks, Samantha
Schlumbaum, Angela
Azor, P.J.
Bailey, Ernest
Alaeddine, Ferial
Mevissen, Meike
Burger, Dominik
Poncet, Pierre-André
Rieder, Stefan
Leeb, Tosso
Editor
Public Libray of Science (PLOS)Fecha
2007Materia
White coat colorHorses
Dominant white (W)
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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