Seven novel KIT mutations in horses with white coat colour phenotypes

Haase, Bianca; Brooks, S.A.; Tozaki, T.; Burger, D.; Poncet, P.A.; Rieder, S.; Hasegawa, T.; Penedo, C.; Leeb, Tosso (2009). Seven novel KIT mutations in horses with white coat colour phenotypes. Animal genetics, 40(5), pp. 623-9. Oxford: Blackwell 10.1111/j.1365-2052.2009.01893.x

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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.

Item Type:	Journal Article (Original Article)
Division/Institute:	05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) 05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
UniBE Contributor:	Haase, Bianca, Leeb, Tosso
Subjects:	500 Science > 590 Animals (Zoology) 600 Technology > 630 Agriculture
ISSN:	0268-9146
Publisher:	Blackwell
Language:	English
Submitter:	Factscience Import
Date Deposited:	04 Oct 2013 15:25
Last Modified:	05 Dec 2022 14:26
Publisher DOI:	10.1111/j.1365-2052.2009.01893.x
Web of Science ID:	000269572800006
URI:	https://boris.unibe.ch/id/eprint/38300 (FactScience: 220956)