Novel variants in the KIT and PAX3 genes in horses with white‐spotted coat colour phenotypes |
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Authors: | Regula Hauswirth Rony Jude Bianca Haase Rebecca R. Bellone Sheila Archer Heather Holl Samantha A. Brooks Teruaki Tozaki Maria Cecilia T. Penedo Stefan Rieder Tosso Leeb |
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Affiliation: | 1. Institute of Genetics, Vetsuisse Faculty, University of Bern, , 3001 Bern, Switzerland;2. DermFocus, University of Bern, , 3001 Bern, Switzerland;3. Certagen GmbH, , 53359 Rheinbach, Germany;4. Faculty of Veterinary Science, University of Sydney, , Sydney, 2006 NSW, Australia;5. Department of Biology, University of Tampa, , Tampa, FL, 33611 USA;6. , Saskatchewan, S0A3E0 Canada;7. Department of Animal Science, Cornell University, Ithaca, , NY, 14853 USA;8. Department of Molecular Genetics, Laboratory of Racing Chemistry, , Utsunomiya, Tochigi, 320‐0851 Japan;9. Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California‐Davis, , Davis, CA, 95616 USA;10. Agroscope ALP‐Haras, Swiss National Stud Farm, , 1580 Avenches, Switzerland |
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Abstract: | 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. |
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Keywords: |
Equus caballus
leucism melanocyte piebaldism pigmentation white spotting |
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