Hinken Julia, Vanhala Tytti, Gòdia Marta, Johnsson Martin, Johansson Anna M
Department of Animal Biosciences, Swedish University of Agricultural Sciences, Box 7023, 750 07, Uppsala, Sweden.
Animal Breeding and Genomics, Wageningen University and Research, Wageningen, Netherlands.
Hereditas. 2025 Jul 7;162(1):122. doi: 10.1186/s41065-025-00481-w.
The Swedish Mountain cattle and four other native Swedish cattle breeds show the phenotype of colour-sidedness. The causes of this phenotype are either a translocation and duplication from chromosome 6 to chromosome 29 (known as Cs) including the KIT gene, or an additional translocation allele where part of Cs has been translocated back to chromosome 6 (Cs). Besides the colour-sidedness, the Cs translocation has been associated with gonadal hypoplasia which can cause fertility problems. Despite breeding efforts during more than 80 years to reduce the prevalence of gonadal hypoplasia, there are still individuals with gonadal hypoplasia. We genotyped the Cs and Cs alleles in Swedish Mountain cattle and five other Swedish native breeds. Whole-genome sequence data of 30 cattle were analysed for the translocations, and 115 DNA samples were analysed using multiplex PCR. The current allele frequency of the Cs allele in Swedish mountain cattle was estimated to be 44%. The results indicate that the Cs translocation is also present in the four other native Swedish cattle breeds with colour-sidedness, and the Cs translocation in at least three of them.
瑞典山地牛和其他四个瑞典本土牛品种表现出毛色偏侧的表型。这种表型的原因要么是6号染色体上包括KIT基因在内的片段易位并重复到29号染色体（称为Cs），要么是另一种易位等位基因，即Cs的一部分又易位回6号染色体（Cs）。除了毛色偏侧外，Cs易位还与性腺发育不全有关，这可能导致生育问题。尽管经过80多年的育种努力以降低性腺发育不全的发生率，但仍有个体存在性腺发育不全。我们对瑞典山地牛和其他五个瑞典本土品种的Cs和Cs等位基因进行了基因分型。分析了30头牛的全基因组序列数据以检测易位情况，并使用多重PCR分析了115个DNA样本。据估计，瑞典山地牛中Cs等位基因的当前等位基因频率为44%。结果表明，Cs易位也存在于其他四个具有毛色偏侧的瑞典本土牛品种中，并且至少在其中三个品种中存在Cs易位。
