Analysis of functional characteristics of coding region and molecular evolution of SLC26A4 gene
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    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(自然科学版英文版),2013,(11):1514-1520.

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  • Received:May 19,2013
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  • Online: November 25,2013
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