人耳聋相关基因GJB3的结构特征及生物信息学分析  

Molecular Structure Characteristics and Bioinformatics Analysis of the Deafness-Causing Gene GJB3

作　　者：孙丹[1] 王帅[1] 魏钦俊[1] 姚俊[1] 曹新[1] 

机构地区：[1]南京医科大学基础医学院,江苏南京210029

出　　处：《生物技术通讯》2013年第1期1-7,共7页Letters in Biotechnology

基　　金：国家自然科学基金(31171217);江苏高校优势学科建设工程资助项目

摘　　要：目的:对间隙连接蛋白Cx31编码基因GJB3的编码区进行生物信息学预测和分析。方法:利用ClustalW2、MEGA5.05和VMD1.9等生物信息学软件对GJB3的保守性、系统进化、三维空间结构和错义突变角度进行分子结构预测和功能分析。结果:系统进化树的构建验证了脊椎动物各纲亲缘关系远近;保守性分析为GJB3致病性突变少于GJB2提供了可能的原因;三维结构预测和错义突变分析解释了GJB3突变的致病性机制。结论:对GJB3基因及其蛋白结构和功能的分析将为后续实验研究奠定基础。Objective： To predict and analyze the coding region of GJB3 with bioinformatics methods. Methods： ClustalW2, MEGAS.05 and VMD1.9 were used to study phylogeny, conservation, 3D structure and missense muta- tions of GJB3 and its encoding protein Cx31. Results： Construction of the phylogenic tree verified the genetic rela- tionships among four classes of vertebrates. Conservation analysis showed that GJB2 encoding protein has a higher level of conservation than that of GJB3 encoding protein, which could become one of the reasons why pathogenic mutations of GJB3 is less than GJB2. Meanwhile, 3D structure prediction and missense mutations analysis explain the pathogenic mutations of GJB3 gene. Conclusion： Study of structure and function of GJB3 and Cx31 could pave a way for further experimental research.

关 键 词：GJB3基因 间隙连接蛋白 生物信息学 系统发育 三维结构 

分 类 号：Q811.4[生物学—生物工程]