Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.
School of Agricultural, Forest and Food Sciences HAFL, Bern University of Applied Sciences, 3052, Zollikofen, Switzerland.
Anim Genet. 2019 Oct;50(5):423-429. doi: 10.1111/age.12821. Epub 2019 Jul 11.
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.
一种特定的白色斑点表型，称为琢木鸟样斑纹或线状背部斑点，已知存在于所有的奥地利 Pinzgauer 牛中，偶尔也会出现在奥地利的 Tux-Zillertaler 牛中。这种所谓的 Pinzgauer 斑点是一种常染色体不完全显性性状遗传。使用基于 777k SNP 数据的 27 头白色斑点和 16 头纯色 Tux-Zillertaler 牛进行的全基因组关联研究，在 6 号染色体上的 KIT 基因座发现了一个强烈的信号。单倍型分析定义了 KIT 编码区域下游 122kb 的关键区间。对一头 Pinzgauer 牛进行全基因组测序，并与 338 个对照基因组进行比较，揭示了一个复杂的结构变异，由 9.4kb 的缺失和 1.5kb 的反向插入重复融合到来自 4 号染色体的 310kb 重复片段组成。开发了一种诊断 PCR，用于对这种结构变异（KIT）的携带者进行简单的基因分型，并证实该变异等位基因存在于所有的 Pinzgauer 和大多数白色斑点的 Tux-Zillertaler 牛中。此外，我们在具有类似斑点模式的斯洛文尼亚的 Cika、英国的 Gloucester 和西班牙的 Berrenda en negro 牛中也检测到了该变异。有趣的是，KIT 变异也存在于瑞士的 Evolèner 和 Eringer 等一些白色斑点的品种中。KIT 变异的渗入证实了这些短头品种与奥地利的 Tux-Zillertaler 之间的混合，并表明在品种形成之前发生了一个突变事件。
