Bovine spongiform encephalopathy (BSE) is a fatal infectious neurodegenerative disease caused by the accumulation of pathogenic prion protein (PrP^Sc) in the central nervous system (CNS), particularly in the brain. In a recent study, the shadow of prion protein (Sho), encoded by the shadow of prion protein (SPRN) gene, accelerates the progression of prion diseases, and a 12-bp insertion/deletion polymorphism in the coding region of the SPRN gene is associated with susceptibility to atypical BSE-affected Polish cattle. To date, the genetic study of the SPRN gene in Korean cattle has not been performed. In this study, we investigated the genotype and allele frequencies of SPRN polymorphisms in 235 Hanwoo and 212 Holstein cattle and analyzed the linkage disequilibrium (LD) and haplotypes of SPRN polymorphisms. In addition, we compared the distribution of the 12-bp insertion/deletion polymorphism between atypical BSE-diagnosed Polish cattle and Korean cattle to evaluate the susceptibility of atypical BSE. Furthermore, we estimated a deleterious effect of polymorphisms on the Sho protein using PROVEAN. We found a total of seven polymorphisms, including one novel single nucleotide polymorphism (SNP), c.231G>A. We also found significantly different distributions of genotype, allele and haplotype frequencies of seven polymorphisms between Hanwoo and Korean Holstein cattle. In addition, all polymorphisms showed strong LDs among the seven polymorphisms. Interestingly, Hanwoo cattle showed more potential susceptible distribution in the genotype and allele frequencies of the 12-bp insertion/deletion polymorphisms of the SPRN gene than Holstein cattle. Finally, using PROVEAN, we found one novel deleterious nonsynonymous SNP to Sho protein, c.110G>C (G37A). To the best of our knowledge, this is the first study of the SPRN gene in Korean cattle.

牛海绵状脑病 (BSE) 是一种致命的传染性神经退行性疾病，由致病性朊病毒蛋白 (PrP ^Sc ) 在中枢神经系统 (CNS)，特别是大脑中的积累引起。在最近的一项研究中，朊病毒阴影蛋白（SPRN）基因编码的朊病毒阴影蛋白（Sho）加速朊病毒疾病的进展，并且在SPRN基因编码区存在12-bp的插入/缺失多态性与对非典型 BSE 感染的波兰牛的易感性有关。迄今为止，尚未对韩国牛的SPRN基因进行遗传研究。在这项研究中，我们调查了SPRN的基因型和等位基因频率在235 HANWOO和212种荷斯坦牛和多态性分析的连锁不平衡（LD）和单倍型SPRN多态性。此外，我们比较了非典型 BSE 诊断的波兰牛和韩国牛之间 12 bp 插入/缺失多态性的分布，以评估非典型 BSE 的易感性。此外，我们使用 PROVEAN 估计了多态性对 Sho 蛋白的有害影响。我们共发现了 7 个多态性，包括一个新的单核苷酸多态性 (SNP)，c.231G>A。我们还发现 Hanwoo 和韩国荷斯坦牛之间 7 种多态性的基因型、等位基因和单倍型频率的分布显着不同。此外，所有多态性在 7 个多态性中都表现出很强的 LD。有趣的是，Hanwoo 牛在 12 bp 插入/缺失多态性的基因型和等位基因频率中表现出更多的潜在易感分布。SPRN基因高于荷斯坦牛。最后，使用 PROVEAN，我们发现了一种新的对 Sho 蛋白有害的非同义 SNP，c.110G>C (G37A)。据我们所知，这是对韩国牛SPRN基因的首次研究。