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

Küttel, L.; Letko, A.; Häfliger, I. M.; Signer-Hasler, Heidi; Joller, S.; Hirsbrunner, G.; Mészáros, G.; Sölkner, J.; Flury, Christine; Leeb, T.; 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-Blackwell 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 PINZ) 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 PINZ variant occurs in some white spotted animals of the Swiss breeds Evolèner and Eringer. The introgression of the KIT PINZ variantconfirms 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:	School of Agricultural, Forest and Food Sciences HAFL > Resource-efficient agricultural production systems School of Agricultural, Forest and Food Sciences HAFL > Agriculture
Name:	Küttel, L.; Letko, A.; Häfliger, I. M.; Signer-Hasler, Heidi0000-0001-5193-5306; Joller, S.; Hirsbrunner, G.; Mészáros, G.; Sölkner, J.; Flury, Christine; Leeb, T. and Drögemüller, C.
Subjects:	S Agriculture > S Agriculture (General) S Agriculture > SF Animal culture
ISSN:	0268-9146
Publisher:	Wiley-Blackwell
Language:	English
Submitter:	Nadine Werndli
Date Deposited:	24 Sep 2019 11:06
Last Modified:	18 Dec 2020 13:29
Publisher DOI:	10.1111/age.12821
ARBOR DOI:	10.24451/arbor.8351
URI:	https://arbor.bfh.ch/id/eprint/8351