Seven novel KIT mutations in horses with white coat colour phenotypes

B. Haase, S. A. Brooks, T. Tozaki, D. Burger, P. A. Poncet, S. Rieder, T. Hasegawa, Cecilia Penedo, T. Leeb

Research output: Contribution to journalArticle

67 Scopus citations

Abstract

Summary 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.

Original languageEnglish (US)
Pages (from-to)623-629
Number of pages7
JournalAnimal Genetics
Volume40
Issue number5
DOIs
StatePublished - Oct 1 2009

Keywords

  • Allelic heterogeneity
  • Coat colour
  • Equus caballus
  • Horse
  • KIT
  • Mutation

ASJC Scopus subject areas

  • Animal Science and Zoology
  • Genetics

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    Haase, B., Brooks, S. A., Tozaki, T., Burger, D., Poncet, P. A., Rieder, S., Hasegawa, T., Penedo, C., & Leeb, T. (2009). Seven novel KIT mutations in horses with white coat colour phenotypes. Animal Genetics, 40(5), 623-629. https://doi.org/10.1111/j.1365-2052.2009.01893.x