SLC26A4基因编码区功能特征及分子进化分析
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国家级大学生创新创业训练计划项目(2012 10312014);江苏省高等学校大学生实践创新训练计划项目(2012JSSPITP1045);江苏高校优势学科建设工程项目资助


Analysis of functional characteristics of coding region and molecular evolution of SLC26A4 gene
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    摘要:

    目的:探讨溶质转运家族26,成员4 (SLC26A4)基因编码区的功能特征及其突变与遗传性非综合征型耳聋(NSHL)发生的关联性。方法:应用生物信息学方法对37个物种的SLC26A4基因编码蛋白(Pendrin)的序列进行系统发育分析,并用滑窗法进一步预测保守区,同时利用在线软件对其编码产物进行结构预测和同源建模。结果:SLC26A4基因在哺乳动物中尤其是灵长目动物中高度保守,通过滑窗法预测得到了12个保守区。二维结构预测提示Pendrin的N末端和C末端可能存在卷曲螺旋结构,同源建模预测显示STAS结构域中的插入序列(IVS)存在物种间差异性。结论:SLC26A4基因突变在NSHL发生中发挥重要作用,发生在保守区的错义突变将导致蛋白结构和功能的改变,从而产生相应的表型。C末端的STAS结构域内的插入序列可能在人类中有独特的作用。

    Abstract:

    Objective:To investigate functional characteristics of coding region of solute carrier family 26,member 4(SLC26A4)gene and to further study the correlation between its mutations and occurrence of non-syndromic hearing loss(NSHL). Methods:Bioinformatic methods were applied to analyze the phylogeny of Pendrin,protein coded by SLC26A4 among 37 species. Conserved regions were identified by a sliding window method. Prediction of secondary structure and homologous modeling were conducted by online tools. Results:SLC26A4 gene was highly conserved among mammals,especially among primate. Twelve conserved regions were identified by using a sliding window method. Prediction of secondary structure suggested that coiled-coils may exist in N- and C-terminals. Homogenous modeling indicated that the intervening sequence(IVS) within the STAS domain varies among different species. Conclusion:Mutations of SLC26A4 play a vital role in the occurrence of NSHL and missense mutations in conserved regions are more likely to cause structural and functional changes,thus generating corresponding phenotypes. IVS within the STAS domain of C-terminal may have special functions in human.

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林梦洁,范 燚,郁 芸,韩新焕. SLC26A4基因编码区功能特征及分子进化分析[J].南京医科大学学报(自然科学版),2013,(11):1514-1520

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  • 收稿日期:2013-05-19
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  • 在线发布日期: 2013-11-25
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