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  

Polymorphisms of coding region in samhd1 gene of rhesus macaques and their effects on protein structure and function

作　　者：熊圣文[1] 王卫[1] 董志会 陈霆[1] 魏强[1] 

机构地区：[1]北京协和医学院比较医学中心、中国医学科学院医学实验动物研究所、卫生部人类疾病比较医学重点实验室、国家中医药管理局人类疾病动物模型三级实验室,北京 100021

出　　处：《中国比较医学杂志》2014年第4期1-4,I0001,共5页Chinese Journal of Comparative Medicine

基　　金：国家科技重大专项课题(2012ZX10004501-001,2013ZX10004-608)

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。Objective To study the impact of cSNP on the structure and function of samhd1 gene in rhesus macaques .Methods RNA was extracted from peripheral blood of rhesus macaques .The cSNP sites were detected and confirmed through reverse transcription 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 SAMHD 1.Meanwhile, G547A, A552T, T839C had secondary structure changed and were likely to impact the function of SAMHD 1.Conclusion Some important cSNP sites are found in samhd1 gene of＆amp;nbsp;rhesus macaques , which may impact on the function of SAMHD 1.

关 键 词：SAMHD1 cSNP 蛋白质结构 功能 恒河猴 

分 类 号：R33[医药卫生—人体生理学]