title: Seven novel KIT mutations in horses with white coat colour phenotypes.
abstract: White coat colour in horses is inherited as a monogenic autosomal dominant trait showing a variable expression of coat depigmentation. Mutations in the KIT gene have previously been shown to cause white coat colour phenotypes in pigs, mice and humans. We recently also demonstrated that four independent mutations in the equine KIT gene are responsible for the dominant white coat colour phenotype in various horse breeds. We have now analysed additional horse families segregating for white coat colour phenotypes and report seven new KIT mutations in independent Thoroughbred, Icelandic Horse, German Holstein, Quarter Horse and South German Draft Horse families. In four of the seven families, only one single white horse, presumably representing the founder for each of the four respective mutations, was available for genotyping. The newly reported mutations comprise two frameshift mutations (c.1126_1129delGAAC; c.2193delG), two missense mutations (c.856G>A; c.1789G>A) and three splice site mutations (c.338-1G>C; c.2222-1G>A; c.2684+1G>A). White phenotypes in horses show a remarkable allelic heterogeneity. In fact, a higher number of alleles are molecularly characterized at the equine KIT gene than for any other known gene in livestock species.
authors.affiliation: Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001 Bern, Switzerland.
authors.forename: B
authors.initials: B
authors.lastname: Haase
authors.forename: S A
authors.initials: SA
authors.lastname: Brooks
authors.forename: T
authors.initials: T
authors.lastname: Tozaki
authors.forename: D
authors.initials: D
authors.lastname: Burger
authors.forename: P-A
authors.initials: PA
authors.lastname: Poncet
authors.forename: S
authors.initials: S
authors.lastname: Rieder
authors.forename: T
authors.initials: T
authors.lastname: Hasegawa
authors.forename: C
authors.initials: C
authors.lastname: Penedo
authors.forename: T
authors.initials: T
authors.lastname: Leeb
mesh_terms: D000818:Animals; D004252:DNA Mutational Analysis / Q000662:veterinary; D006200:Hair Color / Q000235:genetics*; D006736:Horses / Q000235:genetics* / Q000502:physiology; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D012880:Skin Pigmentation / Q000235:genetics*
chemical_list: D019009:Proto-Oncogene Proteins c-kit