Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes.

Dürig, Nicole; Jude, R; Holl, H; Brooks, S A; Lafayette, C; Jagannathan, Vidhya; Leeb, Tosso (2017). Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes. Animal genetics, 48(4), pp. 483-485. Blackwell 10.1111/age.12556

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White spotting phenotypes in horses can range in severity from the common white markings up to completely white horses. EDNRB, KIT, MITF, PAX3 and TRPM1 represent known candidate genes for such phenotypes in horses. For the present study, we re-investigated a large horse family segregating a variable white spotting phenotype, for which conventional Sanger sequencing of the candidate genes' individual exons had failed to reveal the causative variant. We obtained whole genome sequence data from an affected horse and specifically searched for structural variants in the known candidate genes. This analysis revealed a heterozygous ~1.9-kb deletion spanning exons 10-13 of the KIT gene (chr3:77,740,239_77,742,136del1898insTATAT). In continuity with previously named equine KIT variants we propose to designate the newly identified deletion variant W22. We had access to 21 horses carrying the W22 allele. Four of them were compound heterozygous W20/W22 and had a completely white phenotype. Our data suggest that W22 represents a true null allele of the KIT gene, whereas the previously identified W20 leads to a partial loss of function. These findings will enable more precise genetic testing for depigmentation phenotypes in horses.

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)

UniBE Contributor:

Dürig, Nicole; 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:

0268-9146

Publisher:

Blackwell

Language:

English

Submitter:

Tosso Leeb

Date Deposited:

12 Oct 2017 08:21

Last Modified:

12 Feb 2019 14:59

Publisher DOI:

10.1111/age.12556

PubMed ID:

28444912

Uncontrolled Keywords:

KIT Equus caballus coat colour heterogeneity melanocyte pigmentation structural variant

BORIS DOI:

10.7892/boris.99588

URI:

https://boris.unibe.ch/id/eprint/99588

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