Polymorphism of the 86th amino acid in CX26 protein and hereditary deafness
Xi Shi
Shiwei Qiu
Fendong Yan
Lizhang Shi
Yili Xuan
Wei Zhuang
Yingli Bei
Hanli Yao
Na Yuan
Mingyang Shi
Yuehua Qiao
摘要：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.
机标关键词：amino acidfusion proteincell membranehearing losswild type
资助基金：grants from the National Basic Research Program of China (973 Program)(#2012CB967900)National Natural Science Foundation of China(31300624)National Natural Science Foundation of China(81470684)Postdoctoral Science Foundation of China(2015M571818)Six Major Categories Talent(2014-WSN-043)Six Major Categories Talent(2011-WS-074)Innovation and Entrepreneurship Training Program for College Students in Jiangsu Province(201510313003Z)Innovation and Entrepreneurship Training Program for College Students in Jiangsu Province(201510313003)Innovation and Entrepreneurship Training Program for College Students in Jiangsu Province( KYLX14-1455)Clinic Medical Special Foundation of Jiangsu province(b12014032)
论文发表日期：2016-01-01
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：4( 84-87 )
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