Kim Yong-Chan, Jeong Byung-Hoon
a Korea Zoonosis Research Institute , Chonbuk National University , Iksan , Republic of Korea.
b Department of Bioactive Material Sciences , Chonbuk National University , Jeonju , Republic of Korea.
Prion. 2018;12(3-4):245-252. doi: 10.1080/19336896.2018.1513316. Epub 2018 Sep 12.
Prion diseases have a wide host range, but prion-infected cases have never been reported in horses. Genetic polymorphisms that can directly impact the structural stability of horse prion protein have not been investigated thus far. In addition, we noticed that previous studies focusing on horse-specific amino acids and secondary structure predictions of prion protein were performed for limited parts of the protein. In this study, we found genetic polymorphisms in the horse prion protein gene (PRNP) in 201 Thoroughbred horses. The identified polymorphism was assessed to determine whether this polymorphism impedes stability of protein using PolyPhen-2, PROVEAN and PANTHER. In addition, we evaluated horse-specific amino acids in horse and mouse prion proteins using same methods. We found only one single nucleotide polymorphism (SNP) in the horse prion protein, and three annotation tools predicted that the SNP is benign. In addition, horse-specific amino acids showed different effects on horse and mouse prion proteins, respectively. Abbreviations: PRNP: prion protein gene; SNP: single nucleotide polymorphism; CJD: Creutzfeldt-Jakob disease; CWD: chronic wasting disease; TME: transmissible mink encephalopathy; FSE: feline spongiform encephalopathy; MD: molecular dynamics; ER: endoplasmic reticulum; GPI: glycosylphosphatidylinositol; NMR: nuclear magnetic resonance; ORF: open reading frame; GWAS: genome-wide association study; NAPA: non-adaptive prion amplification; HMM: hidden Markov model; NCBI: National Center for Biotechnology Information.
朊病毒疾病具有广泛的宿主范围，但马的朊病毒感染病例从未被报道过。迄今为止，尚未对可能直接影响马朊病毒蛋白结构稳定性的基因多态性进行研究。此外，我们注意到先前针对马朊病毒蛋白特定氨基酸和二级结构预测的研究仅针对该蛋白的有限部分进行。在本研究中，我们在201匹纯种马的朊病毒蛋白基因（PRNP）中发现了基因多态性。使用PolyPhen-2、PROVEAN和PANTHER对鉴定出的多态性进行评估，以确定该多态性是否会阻碍蛋白质的稳定性。此外，我们使用相同方法评估了马和小鼠朊病毒蛋白中的马特异性氨基酸。我们在马朊病毒蛋白中仅发现一个单核苷酸多态性（SNP），并且三种注释工具预测该SNP是良性的。此外，马特异性氨基酸对马和小鼠朊病毒蛋白分别显示出不同的影响。缩写：PRNP：朊病毒蛋白基因；SNP：单核苷酸多态性；CJD：克雅氏病；CWD：慢性消耗病；TME：传染性水貂脑病；FSE：猫海绵状脑病；MD：分子动力学；ER：内质网；GPI：糖基磷脂酰肌醇；NMR：核磁共振；ORF：开放阅读框；GWAS：全基因组关联研究；NAPA：非适应性朊病毒扩增；HMM：隐马尔可夫模型；NCBI：美国国立生物技术信息中心。
