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

Regula Hauswirth, Rony Jude, Bianca Haase, Rebecca Bellone, Sheila Archer, Heather Holl, Samantha A. Brooks, Teruaki Tozaki, Cecilia Penedo, Stefan Rieder, Tosso Leeb

Research output: Contribution to journalArticle

33 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)763-765
Number of pages3
JournalAnimal Genetics
Volume44
Issue number6
DOIs
StatePublished - Dec 1 2013

Fingerprint

Horses
Color
Metrorrhagia
Phenotype
horses
phenotype
color
Genes
genes
Panthera
Appaloosa
Arabian (horse breed)
Genetic Testing
Terminology
breeds
testing

Keywords

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

ASJC Scopus subject areas

  • Animal Science and Zoology
  • Genetics

Cite this

Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes. / Hauswirth, Regula; Jude, Rony; Haase, Bianca; Bellone, Rebecca; Archer, Sheila; Holl, Heather; Brooks, Samantha A.; Tozaki, Teruaki; Penedo, Cecilia; Rieder, Stefan; Leeb, Tosso.

In: Animal Genetics, Vol. 44, No. 6, 01.12.2013, p. 763-765.

Research output: Contribution to journalArticle

Hauswirth, R, Jude, R, Haase, B, Bellone, R, Archer, S, Holl, H, Brooks, SA, Tozaki, T, Penedo, C, Rieder, S & Leeb, T 2013, 'Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes', Animal Genetics, vol. 44, no. 6, pp. 763-765. https://doi.org/10.1111/age.12057
Hauswirth, Regula ; Jude, Rony ; Haase, Bianca ; Bellone, Rebecca ; Archer, Sheila ; Holl, Heather ; Brooks, Samantha A. ; Tozaki, Teruaki ; Penedo, Cecilia ; Rieder, Stefan ; Leeb, Tosso. / Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes. In: Animal Genetics. 2013 ; Vol. 44, No. 6. pp. 763-765.
@article{1074d1ec45d9439aba6d908b45e8d7db,
title = "Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes",
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.",
keywords = "Equus caballus, leucism, melanocyte, piebaldism, pigmentation, white spotting",
author = "Regula Hauswirth and Rony Jude and Bianca Haase and Rebecca Bellone and Sheila Archer and Heather Holl and Brooks, {Samantha A.} and Teruaki Tozaki and Cecilia Penedo and Stefan Rieder and Tosso Leeb",
year = "2013",
month = "12",
day = "1",
doi = "10.1111/age.12057",
language = "English (US)",
volume = "44",
pages = "763--765",
journal = "Animal Genetics",
issn = "0268-9146",
publisher = "Wiley-Blackwell",
number = "6",

}

TY - JOUR

T1 - Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes

AU - Hauswirth, Regula

AU - Jude, Rony

AU - Haase, Bianca

AU - Bellone, Rebecca

AU - Archer, Sheila

AU - Holl, Heather

AU - Brooks, Samantha A.

AU - Tozaki, Teruaki

AU - Penedo, Cecilia

AU - Rieder, Stefan

AU - Leeb, Tosso

PY - 2013/12/1

Y1 - 2013/12/1

N2 - 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.

AB - 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.

KW - Equus caballus

KW - leucism

KW - melanocyte

KW - piebaldism

KW - pigmentation

KW - white spotting

UR - http://www.scopus.com/inward/record.url?scp=84886951640&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84886951640&partnerID=8YFLogxK

U2 - 10.1111/age.12057

DO - 10.1111/age.12057

M3 - Article

C2 - 23659293

AN - SCOPUS:84886951640

VL - 44

SP - 763

EP - 765

JO - Animal Genetics

JF - Animal Genetics

SN - 0268-9146

IS - 6

ER -