Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes.

Hauswirth, Regula; Jude, Rony; Haase, Bianca; Bellone, Rebecca R; Archer, Sheila; Holl, Heather; Brooks, Samantha A; Tozaki, Teruaki; Penedo, Maria Cecilia T; Rieder, Stefan; Leeb, Tosso (2013). Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes. Animal genetics, 44(6), pp. 763-765. Blackwell 10.1111/age.12057

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Variants in the EDNRB, KIT, MITF, PAX3 and TRPM1 genes are known to cause white spotting phenotypes in horses, which can range from the common white markings up to completely white horses. In this study, we investigated these candidate genes in 169 horses with white spotting phenotypes not explained by the previously described variants. We identified a novel missense variant, PAX3:p.Pro32Arg, in Appaloosa horses with a splashed white phenotype in addition to their leopard complex spotting patterns. We also found three novel variants in the KIT gene. The splice site variant c.1346+1G>A occurred in a Swiss Warmblood horse with a pronounced depigmentation phenotype. The missense variant p.Tyr441Cys was present in several part-bred Arabians with sabino-like depigmentation phenotypes. Finally, we provide evidence suggesting that the common and widely distributed KIT:p.Arg682His variant has a very subtle white-increasing effect, which is much less pronounced than the effect of the other described KIT variants. We termed the new KIT variants W18-W20 to provide a simple and unambiguous nomenclature for future genetic testing applications.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Research Foci > DermFocus
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

UniBE Contributor:

Hauswirth, Regula; Haase, Bianca and Leeb, Tosso

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture

ISSN:

0268-9146

Publisher:

Blackwell

Language:

English

Submitter:

Susanne Portner

Date Deposited:

22 Aug 2014 11:35

Last Modified:

14 Oct 2015 11:15

Publisher DOI:

10.1111/age.12057

PubMed ID:

23659293

Uncontrolled Keywords:

Equus caballus, leucism, melanocyte, piebaldism, pigmentation, white spotting

BORIS DOI:

10.7892/boris.43865

URI:

https://boris.unibe.ch/id/eprint/43865

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