Department of Animal Breeding and Genetics, Faculty of Veterinary Medicine and Animal Science, Swedish University of Agricultural Sciences, Box 7923, SE-75007, Uppsala, Sweden.
UFR Génétique, Élevage et Reproduction, Sciences de la Vie et Santé, AgroParisTech, Université Paris Saclay, 16 rue Claude Bernard, F-75231, Paris Cedex 05, France.
Anim Genet. 2019 Dec;50(6):712-717. doi: 10.1111/age.12837. Epub 2019 Sep 2.
By studying genes associated with coat colour, we can understand the role of these genes in pigmentation but also gain insight into selection history. North European short-tailed sheep, including Swedish breeds, have variation in their coat colour, making them good models to expand current knowledge of mutations associated with coat colour in sheep. We studied ASIP and MC1R, two genes with known roles in pigmentation, and their association with black coat colour. We did this by sequencing the coding regions of ASIP in 149 animals and MC1R in 129 animals from seven native Swedish sheep breeds in individuals with black, white or grey fleece. Previously known mutations in ASIP [recessive black allele: g.100_105del (D ) and/or g.5172T>A] were associated with black coat colour in Klövsjö and Roslag sheep breeds and mutations in both ASIP and MC1R (dominant black allele: c.218T>A and/or c.361G>A) were associated with black coat colour in Swedish Finewool. In Gotland, Gute, Värmland and Helsinge sheep breeds, coat colour inheritance was more complex: only 11 of 16 individuals with black fleece had genotypes that could explain their black colour. These breeds have grey individuals in their populations, and grey is believed to be a result of mutations and allelic copy number variation within the ASIP duplication, which could be a possible explanation for the lack of a clear inheritance pattern in these breeds. Finally, we found a novel missense mutation in MC1R (c.452G>A) in Gotland, Gute and Värmland sheep and evidence of a duplication of MC1R in Gotland sheep.
通过研究与毛色相关的基因，我们不仅可以了解这些基因在色素沉着中的作用，还可以深入了解选择历史。北欧短尾绵羊，包括瑞典品种，其毛色存在变化，这使它们成为扩展目前对绵羊毛色突变相关知识的良好模型。我们研究了 ASIP 和 MC1R 这两个已知在色素沉着中起作用的基因，以及它们与黑色毛色的关联。我们对 7 个瑞典本土绵羊品种的 149 只动物的 ASIP 编码区和 129 只动物的 MC1R 进行了测序，这些动物的羊毛颜色为黑色、白色或灰色。ASIP 中以前已知的突变[隐性黑色等位基因：g.100_105del (D ) 和/或 g.5172T>A]与 Klövsjö 和 Roslag 绵羊品种的黑色毛色相关，ASIP 和 MC1R 中的突变（显性黑色等位基因：c.218T>A 和/或 c.361G>A）与瑞典细毛的黑色毛色相关。在哥特兰、古特、韦姆兰和赫尔辛厄绵羊品种中，毛色遗传更为复杂：只有 16 只黑色羊毛个体中的 11 只具有可以解释其黑色毛色的基因型。这些品种的群体中存在灰色个体，而灰色被认为是 ASIP 重复序列中的突变和等位基因拷贝数变异的结果，这可能是这些品种中缺乏明确遗传模式的一个可能解释。最后，我们在哥特兰、古特和韦姆兰绵羊中发现了 MC1R 中的一个新错义突变（c.452G>A），并在哥特兰绵羊中发现了 MC1R 的重复证据。
