Druml T, Grilz-Seger G, Neuditschko M, Horna M, Ricard A, Pausch H, Brem G
Institute of Animal Breeding and Genetics, University of Veterinary Sciences Vienna, Veterinärplatz 1, A-1210, Vienna, Austria.
Pöckau 41, A-9601, Arnoldstein, Austria.
Anim Genet. 2018 Jun;49(3):249-253. doi: 10.1111/age.12657. Epub 2018 Apr 10.
Within the framework of genome-wide analyses using the novel Axiom genotyping array, we investigated the distribution of two previously described coat color patterns, namely sabino1 (SBI), associated with the KIT gene (KI16+1037A), and splashed white, associated with the PAX3 gene (ECA6:g.11429753C>T; PAX3 ), including a total of 899 horses originating from eight different breeds (Achal Theke, Purebred Arabian, Partbred Arabian, Anglo-Arabian, Shagya Arabian, Haflinger, Lipizzan and Noriker). Based on the data we collected we were able to demonstrate that, besides Quarter horses, the PAX3 allele is also present in Noriker (seven out of 189) and Lipizzan (three out of 329) horses. The SB1 allele was present in three breeds (Haflinger, 14 out of 98; Noriker, four out of 189; Lipizzan one out of 329). Furthermore, we examined the phenotypes of SB1- and PAX3 -carrier horses for their characteristic white spotting patterns. None of the SB1/sb1-carrier horses met the criteria defining the Sabino1 pattern according to current applied protocols. From 10 heterozygous PAX3 -carrier horses, two had nearly a splashed white phenotype. The results of this large-scale experiment on the genetic association of white spotting patterns in horses underline the influence of gene interactions and population differences on complex traits such as Sabino1 and splashed white.
在使用新型Axiom基因分型阵列进行全基因组分析的框架内，我们研究了两种先前描述的毛色模式的分布，即与KIT基因（KI16 + 1037A）相关的萨比诺1型（SBI）和与PAX3基因（ECA6:g.11429753C>T；PAX3）相关的泼溅白色，共涉及来自八个不同品种（阿哈尔·特克、纯血阿拉伯马、半血阿拉伯马、英阿拉伯马、沙吉亚阿拉伯马、哈福林格马、利皮扎马和诺里克马）的899匹马。基于我们收集的数据，我们能够证明，除了夸特马之外，PAX3等位基因也存在于诺里克马（189匹中有7匹）和利皮扎马（329匹中有3匹）中。SB1等位基因存在于三个品种中（哈福林格马，98匹中有14匹；诺里克马，189匹中有4匹；利皮扎马，329匹中有1匹）。此外，我们检查了携带SB1和PAX3基因的马的表型，以观察其特征性的白色斑点模式。根据目前应用的方案，没有一匹SB1/sb1携带马符合定义萨比诺1型模式的标准。在10匹杂合PAX3携带马中，有两匹几乎具有泼溅白色的表型。这项关于马白色斑点模式遗传关联的大规模实验结果强调了基因相互作用和种群差异对萨比诺1型和泼溅白色等复杂性状的影响。
