Polymorphism of the 86th amino acid in CX26 protein and hereditary deafness

Xi Shi; Mingyang Shi; Yuehua Qiao; Shiwei Qiu; Fendong Yan; Lizhang Shi; Yili Xuan; Wei Zhuang; Yingli Bei; Hanli Yao; Na Yuan

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Polymorphism of the 86th amino acid in CX26 protein and hereditary deafness

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Objective:To investigate the membrane localization function of the CX26 protein when its 86th amino acid is Thr, Ser or Arg, and its relations to deafness. Methods:CX26-GFP protein with either Thr, Ser or Arg as the 86th amino acid was expressed in mouse SGN cells via the GFP fusion type lenti-virus expression system. The membrane localization of the fusion protein was observed under a fluorescence microscope. Results:The mutated protein of CX26 T86S was localized to cell membrane and form gap conjunction structures, showing no difference to the wild type CX26 protein (with Thr as the 86th amino acid). However, the gap conjunction structure disappeared when the mutation was CX26 T86A. Conclusion:These results indicate that the CX26 T86R mutation may be a cause of hearing loss, but CX26 T86S as a non-pathogenic poly-morphism mutation does not affect functions of the CX26 protein. The results are in accordance with the results of clinical screening.

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《中华耳科学杂志（英文版）》 |2016年第002期|84-87|共4页
作者
Xi Shi; Mingyang Shi; Yuehua Qiao; Shiwei Qiu; Fendong Yan; Lizhang Shi; Yili Xuan; Wei Zhuang; Yingli Bei; Hanli Yao; Na Yuan;
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作者单位

Institute of Audiology and Balance Science, Xuzhou Medical University, Xuzhou 221004, China;

Department of 0tolaryngologydHead&Neck Surgery, Institute of 0tolaryngology of PLA, Chinese PLA General Hospital, Beijing 100853, China;

Clinical Hearing Center, Affiliated Hospital of Xuzhou Medical University, Xuzhou 221006, China;

Institute of Audiology and Balance Science, Xuzhou Medical University, Xuzhou 221004, China;

Institute of Audiology and Balance Science, Xuzhou Medical University, Xuzhou 221004, China;

Institute of Audiology and Balance Science, Xuzhou Medical University, Xuzhou 221004, China;

Institute of Audiology and Balance Science, Xuzhou Medical University, Xuzhou 221004, China;

Institute of Audiology and Balance Science, Xuzhou Medical University, Xuzhou 221004, China;

Institute of Audiology and Balance Science, Xuzhou Medical University, Xuzhou 221004, China;

Institute of Audiology and Balance Science, Xuzhou Medical University, Xuzhou 221004, China;

Institute of Audiology and Balance Science, Xuzhou Medical University, Xuzhou 221004, China;

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Polymorphism of the 86th amino acid in CX26 protein and hereditary deafness

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