PDF(Pubmed)
Abstract：
Prion disease is a fatal infectious disease caused by the accumulation of pathogenic prion protein (PrPSc) in several mammals. However, to date, prion disease has not been reported in horses. The Sho protein encoded by the shadow of the prion protein gene (SPRN) plays an essential role in the pathomechanism of prion diseases. To date, the only genetic study of the equine SPRN gene has been reported in the inbred horse, Thoroughbred horse. We first discovered four SPRN single nucleotide polymorphisms (SNPs) in 141 Jeju and 88 Halla horses by direct DNA sequencing. In addition, we found that the genotype, allele and haplotype frequencies of these SNPs of Jeju horses were significantly different from those of Halla and Thoroughbred horses, this latter breed is also included in this study. Furthermore, we observed that the minimum free energy and mRNA secondary structure were significantly different according to haplotypes of equine SPRN polymorphisms by the RNAsnp program. Finally, we compared the SNPs in the coding sequence (CDS) of the SPRN gene between horses and prion disease-susceptible species. Notably, prion disease-susceptible animals had polymorphisms that cause amino acid changes in the open reading frame (ORF) of the SPRN gene, while these polymorphisms were not found in horses.
摘要：
朊病毒病是由致病性朊病毒蛋白(PrPSc)在几种哺乳动物体内积累引起的致命传染病。然而,到目前为止,在马匹中还没有报告朊病毒病。由朊病毒蛋白基因（SPRN）阴影编码的Sho蛋白在朊病毒疾病的病理机制中起着至关重要的作用。迄今为止,唯一的马SPRN基因的遗传研究已经在近交马中报道，纯种马.通过直接DNA测序，我们首次在141匹济州和88匹Halla马中发现了四个SPRN单核苷酸多态性（SNP）。此外,我们发现基因型，济州马的这些SNP的等位基因和单倍型频率与Halla和纯种马的频率显着不同，后一个品种也包括在本研究中。此外，我们通过RNAsnp程序观察到，根据马SPRN多态性的单倍型，最低自由能和mRNA二级结构显着不同。最后,我们比较了马和朊病毒疾病易感物种之间SPRN基因编码序列（CDS）中的SNP。值得注意的是,prion疾病易感动物具有多态性，导致SPRN基因开放阅读框（ORF）中的氨基酸变化，而这些多态性在马中没有发现。
