Abstract：
Prion diseases are fatal neurodegenerative diseases affecting humans and animals. A relationship between variations in the prion gene of some species and susceptibility to prion diseases has been detected. However, variations in the prion protein of cats that have close contact with humans and their effect on prion protein are not well-known. Therefore, this study aimed to investigate the variations of prion protein-encoding gene (PRNP gene) in stray cats and to evaluate variants detected in terms of genetic factors associated with susceptibility or resistance to feline spongiform encephalopathy using bioinformatics tools. For this, cat DNA samples were amplified by a PCR targeting PRNP gene and then sequenced to reveal the variations. Finally, the effects of variants on prion protein were predicted by bioinformatics tools. According to the obtained results, a novel 108 bp deletion and nine SNPs were detected. Among SNPs, five (c314A>G, c.454T>A, c.579G>C, c.642G>C and c.672G>C) were detected for the first time in this study. Bioinformatics findings showed that c.579G>C (Q193H), c.454T>A (Y152N) and c.457G>A (E153K) variants have deleterious effects on prion protein and c.579G>C (Q193H) has high amyloid propensities. This study demonstrates prion protein variants of stray cats and their deleterious effects on prion protein for the first time.
摘要：
朊病毒病是影响人类和动物的致命性神经退行性疾病。已检测到某些物种的the病毒基因变异与对the病毒疾病的易感性之间的关系。然而,与人类密切接触的猫的朊病毒蛋白变化及其对朊病毒蛋白的影响尚不为人所知。因此,这项研究旨在调查流浪猫中朊病毒蛋白编码基因(PRNP基因)的变异,并使用生物信息学工具评估与猫海绵状脑病易感性或抗性相关的遗传因素方面检测到的变异.为此，通过靶向PRNP基因的PCR扩增猫DNA样品，然后测序以揭示变异。最后,通过生物信息学工具预测变异体对朊病毒蛋白的影响。根据得到的结果,检测到一个新的108bp缺失和9个SNP。在SNP中，五(c314A>G,c.454T>A，c.579G>C，在本研究中首次检测到c.642G>C和c.672G>C)。生物信息学研究结果表明，c.579G>C(Q193H)，c.454T>A（Y152N）和c.457G>A（E153K）变体对朊病毒蛋白具有有害作用，c.579G>C（Q193H）具有高淀粉样蛋白倾向。这项研究首次证明了流浪猫的朊病毒蛋白变体及其对朊病毒蛋白的有害影响。
