A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern.

Küttel, Luzia Marlis; Letko, Anna; Häfliger, Irene Monika; Signer-Hasler, H; Joller, Sara; Hirsbrunner, Gabriela; Mészáros, G; Sölkner, J; Flury, C; Leeb, Tosso; Drögemüller, C. (2019). A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern. Animal genetics, 50(5), pp. 423-429. Wiley 10.1111/age.12821

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A specific white spotting phenotype, termed finching or line-backed spotting, is known for all Pinzgauer cattle and occurs occasionally in Tux-Zillertaler cattle, two Austrian breeds. The so-called Pinzgauer spotting is inherited as an autosomal incompletely dominant trait. A genome-wide association study using 27 white spotted and 16 solid-coloured Tux-Zillertaler cattle, based on 777k SNP data, revealed a strong signal on chromosome 6 at the KIT locus. Haplotype analyses defined a critical interval of 122 kb downstream of the KIT coding region. Whole-genome sequencing of a Pinzgauer cattle and comparison to 338 control genomes revealed a complex structural variant consisting of a 9.4-kb deletion and an inversely inserted duplication of 1.5 kb fused to a 310-kb duplicated segment from chromosome 4. A diagnostic PCR was developed for straightforward genotyping of carriers for this structural variant (KIT ) and confirmed that the variant allele was present in all Pinzgauer and most of the white spotted Tux-Zillertaler cattle. In addition, we detected the variant in all Slovenian Cika, British Gloucester and Spanish Berrenda en negro cattle with similar spotting patterns. Interestingly, the KIT variant occurs in some white spotted animals of the Swiss breeds Evolèner and Eringer. The introgression of the KIT variant confirms admixture and the reported historical relationship of these short-headed breeds with Austrian Tux-Zillertaler and suggests a mutation event, occurring before breed formation.

Item Type:

Journal Article (Original Article)

Division/Institute:

Graduate Schools > Graduate School for Cellular and Biomedical Sciences (GCB)
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV)
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV) > Clinic for Ruminants

Graduate School:

Graduate School for Cellular and Biomedical Sciences (GCB)

UniBE Contributor:

Küttel, Luzia Marlis; Letko, Anna; Häfliger, Irene Monika; Joller, Sara; Hirsbrunner, Gabriela; Leeb, Tosso and Drögemüller, Cord

Subjects:

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

ISSN:

0268-9146

Publisher:

Wiley

Language:

English

Submitter:

Cord Drögemüller

Date Deposited:

26 Aug 2019 15:26

Last Modified:

28 Oct 2019 05:04

Publisher DOI:

10.1111/age.12821

PubMed ID:

31294880

Uncontrolled Keywords:

copy number variant depigmentation genome-wide association study melanocyte whole genome sequencing

BORIS DOI:

10.7892/boris.131978

URI:

https://boris.unibe.ch/id/eprint/131978

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