A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype.

Hug, Petra; Jude, R; Henkel, Jan Wolfgang; Jagannathan, Vidya; Leeb, Tosso (2019). A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype. Animal genetics, 50(6), pp. 761-763. Wiley 10.1111/age.12840

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

05 Veterinary Medicine > Research Foci > DermFocus
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

Graduate School:

Graduate School for Cellular and Biomedical Sciences (GCB)

UniBE Contributor:

Hug, Petra; Henkel, Jan Wolfgang; Jagannathan, Vidya and Leeb, Tosso

Subjects:

500 Science > 590 Animals (Zoology)
600 Technology > 630 Agriculture
500 Science > 570 Life sciences; biology
600 Technology > 610 Medicine & health

ISSN:

1365-2052

Publisher:

Wiley

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

21 Nov 2019 10:42

Last Modified:

21 Nov 2019 10:52

Publisher DOI:

10.1111/age.12840

PubMed ID:

31463981

Uncontrolled Keywords:

Equus caballus coat colour melanocyte pigmentation skin structural variant whole genome sequencing

BORIS DOI:

10.7892/boris.135287

URI:

https://boris.unibe.ch/id/eprint/135287

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