Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland; DermFocus, University of Bern, 3001, Bern, Switzerland.
Anim Genet. 2013 Dec;44(6):763-5. doi: 10.1111/age.12057. Epub 2013 May 9.
Variants in the EDNRB, KIT, MITF, PAX3 and TRPM1 genes are known to cause white spotting phenotypes in horses, which can range from the common white markings up to completely white horses. In this study, we investigated these candidate genes in 169 horses with white spotting phenotypes not explained by the previously described variants. We identified a novel missense variant, PAX3:p.Pro32Arg, in Appaloosa horses with a splashed white phenotype in addition to their leopard complex spotting patterns. We also found three novel variants in the KIT gene. The splice site variant c.1346+1G>A occurred in a Swiss Warmblood horse with a pronounced depigmentation phenotype. The missense variant p.Tyr441Cys was present in several part-bred Arabians with sabino-like depigmentation phenotypes. Finally, we provide evidence suggesting that the common and widely distributed KIT:p.Arg682His variant has a very subtle white-increasing effect, which is much less pronounced than the effect of the other described KIT variants. We termed the new KIT variants W18-W20 to provide a simple and unambiguous nomenclature for future genetic testing applications.
已知 EDNRB、KIT、MITF、PAX3 和 TRPM1 基因中的变异可导致马的白色斑点表型，其范围从常见的白色标记到完全白色的马。在这项研究中，我们研究了 169 匹具有白色斑点表型的马，这些马的表型不能用先前描述的变异来解释。我们在具有 splashed white 表型的阿帕卢萨马中发现了一种新的错义变异 PAX3:p.Pro32Arg，除了它们的豹状复杂斑点模式。我们还在 KIT 基因中发现了三个新的变异。剪接位点变异 c.1346+1G>A 出现在一匹具有明显脱色表型的瑞士温血马中。错义变异 p.Tyr441Cys 存在于几个部分杂种阿拉伯马中，具有类似于 sabino 的脱色表型。最后，我们提供的证据表明，常见且广泛分布的 KIT:p.Arg682His 变异具有非常轻微的增白作用，其作用远不如其他描述的 KIT 变异明显。我们将新的 KIT 变异命名为 W18-W20，以便为未来的遗传测试应用提供简单且明确的命名法。
