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

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• 作者：Xi Shi<sup>asup> ; Shiwei Qiu<sup>asup> ; Fendong Yan<sup>asup> ; Lizhang Shi<sup>asup> ; Yili Xuan<sup>asup> ; Wei Zhuang<sup>asup> ; Yingli Bei<sup>asup> ; Hanli Yao<sup>asup> ; Na Yuan<sup>asup> ; Mingyang Shi<sup>bsup><sup> ; sup><sup>yangsm301@263.net" class="auth_mail" title="E-mail the corresponding authorsup> ; Yuehua Qiao<sup>csup><sup> ; sup><sup>oto8558@163.com" class="auth_mail" title="E-mail the corresponding authorsup>
• 关键词：Heredity deafness ; CX26 ; SGN
• 刊名：Journal of Otology
• 出版年：2016
• 出版时间：June 2016
• 年：2016
• 卷：11
• 期：2
• 页码：84-87
• 全文大小：702 K

文摘

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.

sSec_2">Methods

spara0015">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.

sSec_3">Results

spara0020">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.

sSec_4">Conclusion

spara0025">These results indicate that the CX26 T86R mutation may be a cause of hearing loss, but CX26 T86S as a non-pathogenic polymorphism mutation does not affect functions of the CX26 protein. The results are in accordance with the results of clinical screening.