The Valais Blackneck goat is a Swiss goat breed with a characteristic coat color phenotype. Before the revision of the breed standard in 1938, 4 different color varieties of Valais goats were known. Besides Blackneck animals resembling the modern breed standard, the brown and white Copperneck goat, the white Capra Sempione, and the greyish Grüenochte comprised the historic Valais goats. The brown pigmentation of Copperneck goats had previously been traced back to an introgression of a mutant TYRP1 allele from Toggenburg goats. In the present study, we identified additional introgression events of distinct ASIP alleles causing the remaining 2 rare coat color patterns within the Valais Blackneck goat breed. We identified the introgression of the AWt allele from Appenzell or Saanen goats in white Capra Sempione goats. Similarly, introgression of the Apc allele from Peacock goats resulted in the greyish Grüenochte phenotype. These results demonstrate past hybridization events between breeds that are separated today. A perfect genotype-phenotype association in 393 Valais goats supported the causality of the genotyped variants for the different coat color phenotypes. Our study gives insights into the introgression of functionally relevant copy number variant (CNV) alleles controlling pigmentation between goat breeds with strikingly different coat color patterns.

中文翻译：

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ASIP 和 TYRP1 等位基因的渗入解释了瓦莱州山羊的毛色变化

瓦莱州黑颈山羊是一种瑞士山羊品种，具有特征性的毛色表型。在 1938 年品种标准修订之前，已知有 4 种不同颜色的瓦莱山羊品种。除了类似于现代品种标准的黑颈动物外，棕色和白色的铜颈山羊、白色的 Capra Sempione 和灰色的 Grüenochte 构成了历史悠久的瓦莱山羊。Copperneck 山羊的棕色色素沉着以前可以追溯到 Toggenburg 山羊的突变 TYRP1 等位基因的渗入。在本研究中，我们确定了不同 ASIP 等位基因的额外渗入事件，导致 Valais Blackneck 山羊品种中剩余的 2 种稀有毛色模式。我们在白色 Capra Sempione 山羊中发现了来自 Appenzell 或 Saanen 山羊的 AWt 等位基因的渗入。相似地，孔雀山羊 Apc 等位基因的渗入导致灰色 Grüenochte 表型。这些结果证明了今天分离的品种之间过去的杂交事件。393 只瓦莱州山羊的完美基因型-表型关联支持不同毛色表型的基因型变异的因果关系。我们的研究深入了解了功能相关拷贝数变异 (CNV) 等位基因的基因渗入，这些基因控制着具有显着不同毛色模式的山羊品种之间的色素沉着。