中国恒河猴samhd1基因的csnp对蛋白质 - 中国实验动物学报.docVIP

研究报告 恒河猴samhd1基因编码区多态性及其对蛋白结构和功能的影响( 熊圣文，王卫，，霆，魏强 100021） 【摘要】目的 筛查恒河猴samhd1基因编码区单核苷酸多态性(coding-region single nucleotide polymorphism, cSNP)，研究其对蛋白结构和功能的影响。方法 提取恒河猴外周血RNA，RT-PCR扩增，测序比对，确定基因编码区变异位点；通过蛋白质结构分析软件对该蛋白结构进行分析；使用SNaPshot方法筛查138只恒河猴基因背景。结果 序列比对发现5个非同义突变位点C15G (2.17%)、C320T (6.88%)、G547A (13.41%)、A552T (4.35%)、T839C (17.39%)；其中除C15G外的其它四个cSNP位点均处于SAMHD1蛋白重要结构域上，且G547A、A552T、T839C三个cSNP位点改变SAMHD1蛋白二级结构，可能影响SAMHD1蛋白功能。结论 恒河猴samhd1基因编码区存在三个可能影响SAMHD1蛋白功能的cSNP位点，为后续研究提供了参考信息。 【关键词】【中图分类号】R33【文献标识码】A【文章编号】1671-7856（201）-0000-00 Doi:10.3969/j.issn.1671-7856.2014.004.000 Polymorphisms of coding region in samhd1 gene of Rhesus macaques and their effects on protein structure and function XIONG Sheng-wen, WANG Wei, DONG Zhi-hui, CHENG Ting, WEI Qiang (Comparative Medicine Center, Peking Union Medical College (PUMC) Institute of Medical Laboratory Animal Science, Chinese Academy of Medical Sciences(CAMS); Key Laboratory of Human Diseases Comparative Medicine, Ministry of Health; Key Laboratory of Human Diseases Animal Models, State administration of Traditional Chinese medicine , Beijing 100021, China) 【Abstract】 Objective To study the impacts of cSNP on the structure and function of samhd1 gene in rhesus macaques. Methods RNA were extracted from peripheral blood of rhesus macaques. The cSNP sites were detected and confirmed through reverse transcript PCR, sequencing and sequence alignment. Protein structure and function were analyzed with Predictprotein and SWISS-MODEL. Finally, the functional cSNP sites were screened by SNaPshot technique in a larger sample scale. Results Five non-synonymous mutation sites (C15G (2.17%), C320T (6.88%), G547A (13.41%), A552T (4.35%) and T839C (17.39%)) were found, respectively. Four of them, except C15G, were included in the key structure domains of SAMHD1. Meanwhile, G547A, A552T, T839C had secondary structure changed and were likely to impact the function of SAMHD1. Conclusion Some impor