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Association analysis of KIT, MITF, and PAX3 variants with white markings in Spanish horses
Univ Seville, Dept Agroforestal Sci, Seville 41013, Spain..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology. Uppsala University, Science for Life Laboratory, SciLifeLab.ORCID iD: 0000-0002-9452-5566
Univ Seville, Dept Agroforestal Sci, Seville 41013, Spain..
Cordoba Univ, Dept Genet, Cordoba 14071, Spain..
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2017 (English)In: Animal Genetics, ISSN 0268-9146, E-ISSN 1365-2052, Vol. 48, no 3, 349-352 p.Article in journal (Refereed) Published
Abstract [en]

Several variants in the KIT, PAX3 and MITF genes have previously been associated with white markings in horses. In this study, we examined eight variants of these genes in 70 Menorca Purebred horses (PRMe, only black solid-coloured horses) and 70 Spanish Purebred horses (PRE, different coat colour patterns) that were scored for the extent of white markings. A maximum-likelihood chi-square test, logistic regression model and ridge regression analyses showed that a missense mutation (p.Arg682His) in KIT was associated with white facial markings (P<0.05) and with total white markings (P<0.05) in PRMe horses. The relative contribution of this variant to white markings in PRMe horses was estimated at 47.6% (head) and 43.4% (total score). In PRE horses, this variant was also associated with hindlimb scores (P<0.05) with a relative contribution of 41.2%. The g.20147039C>T intronic variant located 29.9kb downstream from the transcription start site of the MITF gene was associated with less white markings on forelimbs (P<0.05) in PRMe horses, with a relative contribution of 63.9%, whereas in PRE horses this variant was associated with white facial markings (P<0.05), with a relative contribution of 63.9%. No significant associations were found for PAX3 variants in these breeds. These results show that KIT and MITF variants are involved in the white marking patterns of both PRMe and PRE horses, providing breeders with an opportunity to use genetic testing to aid in breeding for their desired level of white markings.

Place, publisher, year, edition, pages
2017. Vol. 48, no 3, 349-352 p.
Keyword [en]
Menorca Purebred, phenotypic variance, Purebred, SNP, white spotting
National Category
Genetics Medical Biotechnology
Identifiers
URN: urn:nbn:se:uu:diva-322506DOI: 10.1111/age.12528ISI: 000399953100010PubMedID: 28084638OAI: oai:DiVA.org:uu-322506DiVA: diva2:1103349
Available from: 2017-05-30 Created: 2017-05-30 Last updated: 2017-05-30Bibliographically approved

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Imsland, FreyjaAndersson, Leif
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