CAJ | 학술논문

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.
목적:대간극련접단백Cx31편마기인GJB3적편마구진행생물신식학예측화분석.방법:이용ClustalW2、MEGA5.05화VMD1.9등생물신식학연건대GJB3적보수성、계통진화、삼유공간결구화착의돌변각도진행분자결구예측화공능분석.결과:계통진화수적구건험증료척추동물각강친연관계원근;보수성분석위GJB3치병성돌변소우GJB2제공료가능적원인;삼유결구예측화착의돌변분석해석료GJB3돌변적치병성궤제.결론:대GJB3기인급기단백결구화공능적분석장위후속실험연구전정기출.
Objective: To predict and analyze the coding region of GJB3 with bioinformatics methods. Methods:ClustalW2, MEGA5.05 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.