A novel KIT deletion variant in a German Riding Pony with white‐spotting coat colour phenotype. (28th August 2019)

• Record Type: Journal Article
• Authors: Hug, P.; Jude, R.; Henkel, J.; Jagannathan, V.; Leeb, T.
• Is Part Of: Animal genetics. Volume 50:Number 6(2019)
• Page Start: 761
• Page End: 763
• Publication Date: 2019-08-28
• Subjects: coat colour -- Equus caballus -- melanocyte -- pigmentation -- skin -- structural variant -- whole genome sequencing; Animal genetics -- Periodicals; 572.8
• DOI: 10.1111/age.12840
• Languages: English
• ISSNs: 0268-9146

Abstract

Summary: White spotting phenotypes in horses may be caused by developmental alterations impairing melanoblast differentiation, survival, migration and/or proliferation. Candidate genes for white‐spotting phenotypes in horses include EDNRB, KIT, MITF, PAX3 and TRPM1 . We investigated a German Riding Pony with a sabino‐like phenotype involving extensive white spots on the body together with large white markings on the head and almost completely white legs. We obtained whole genome sequence data from this horse. The analysis revealed a heterozygous 1273‐bp deletion spanning parts of intron 2 and exon 3 of the equine KIT gene (Chr3: 79 579 925–79 581 197). We confirmed the breakpoints of the deletion by PCR and Sanger sequencing. Knowledge of the functional impact of similar KIT variants in horses and other species suggests that this deletion represents a plausible candidate causative variant for the white‐spotting phenotype. We propose the designation W28 for the mutant allele.