Birkan Tuğçe, Şahin Mesut, Öztel Zubeyde, Balcan Erdal
Celal Bayar University, Faculty of Arts and Science, Department of Biology, Molecular Biology Section, 45047 Muradiye Campus, Manisa - Turkey.
J Biosci. 2016 Mar;41(1):97-107. doi: 10.1007/s12038-015-9584-7.
Genetic variations such as single nucleotide polymorphisms (SNPs) in prion protein coding gene, Prnp, greatly affect susceptibility to prion diseases in mammals. Here, the coding region of Prnp was screened for polymorphisms in redeared turtle, Trachemys scripta. Four polymorphisms, L203V, N205I, V225A and M237V, were common in 15 out of 30 turtles; in one sample, three SNPs, L203V, N205I and M237V, and in the remaining 14 samples, only L203V and N205I polymorphisms, were investigated. Besides, C658T, C664T, C670A and C823A SNPs were silent mutations. To elucidate the relationship between the SNPs and apoptosis, TUNEL assays and active caspase-3 immunodetection techniques in brain sections of the polymorphic samples were performed. The results revealed that TUNEL-positive cells and active caspase-3-positive cells in the turtles with four polymorphisms were significantly increased compared with those of the turtles with two polymorphisms (P less than 0.01 and P less than 0.05, respectively). In conclusion, this study provides preliminary information about the possible relationship between SNPs within the Prnp locus and apoptosis in a non-mammalian species, Trachemys scripta, in which prion disease has never been reported.
遗传变异,如朊病毒蛋白编码基因Prnp中的单核苷酸多态性(SNP),极大地影响哺乳动物对朊病毒疾病的易感性。在此,对红耳龟(滑龟)Prnp的编码区进行了多态性筛查。在30只乌龟中的15只中,发现了四种多态性,即L203V、N205I、V225A和M237V;在一个样本中,研究了三个SNP,即L203V、N205I和M237V,在其余14个样本中,仅研究了L203V和N205I多态性。此外,C658T、C664T、C670A和C823A SNP为沉默突变。为了阐明SNP与细胞凋亡之间的关系,对多态性样本的脑切片进行了TUNEL检测和活性caspase-3免疫检测技术。结果显示,与具有两种多态性的乌龟相比,具有四种多态性的乌龟中TUNEL阳性细胞和活性caspase-3阳性细胞显著增加(分别为P<0.01和P<0.05)。总之,本研究提供了关于Prnp基因座内SNP与一种从未报道过朊病毒疾病的非哺乳动物物种——红耳龟细胞凋亡之间可能关系的初步信息。