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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。
Objective: To investigate the functional characteristics of the coding region of solute transporter family 26 and member 4 (SLC26A4) and its association with the development of hereditary nonsyndromic hearing loss (NSHL). METHODS: Phylogenetic analysis of the sequence of the SLC26A4-encoded protein (Pendrin) from 37 species was carried out by using bioinformatics methods. The conserved region was further predicted by the sliding window method. At the same time, the structure of the encoded protein of SLC26A4 was predicted by online software. mold. Results: The SLC26A4 gene was highly conserved in mammals, especially primates. Twelve conserved regions were predicted by the sliding window method. Two-dimensional structure prediction suggests that there may be coiled-coil structure in Pendrin at the N-terminal and C-terminal. Homology modeling predicts there is inter-species diversity in the insertion sequence (IVS) of STAS domain. CONCLUSIONS: SLC26A4 gene mutation plays an important role in the development of NSHL. The missense mutation in the conserved region will lead to changes in the structure and function of the protein, resulting in the corresponding phenotype. Insertions within the C-terminal STAS domain may have a unique role in humans.