人耳聾相關基因GJB3的結構特征及生物信息學分析

目的:對間隙連接蛋白Cx31編碼基因GJB3的編碼區進行生物信息學預測和分析。方法: 利用ClustalW2、MEGA5.05和VMD1.9等生物信息學軟件對GJB3的保守性、系統進化、三維空間結構和錯義突變角度進行分子結構預測和功能分析。結果:系統進化樹的構建驗證了脊椎動物各綱親緣關系遠近;保守性分析為GJB3致病性突變少于GJB2提供了可能的原因;三維結構預測和錯義突變分析解釋了GJB3突變的致病性機制。結論:對GJB3基因及其蛋白結構和功能的分析將為后續實驗研究奠定基礎。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 mutations of GJB3 and its encoding protein Cx31. Results: Construction of the phylogenic tree verified the genetic relationships 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 are less than those of GJB2. Meanwhile, 3D structure prediction and missense mutations analysis explain the pathogenic mutations of the GJB3 gene. Conclusion: Study of the structure and function of GJB3 and Cx31 could pave the way for further experimental research.