Polymorphism of the 86th amino acid in CX26 protein and hereditary deafness
SHI Xi
DONG Yanfen
QIU Shiwei
ZHUANG Wei
QIAO Yuehua
Abstract：Objective To investigate the member localization function of 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 expres-sion 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 struc-tures, 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 the CX26 T86S as a non-pathogenic poly-morphism mutation does not affect functions of the CX26 protein. The results are in accordance with the re-sults of clinical screening.
Keywords：Heredity deafnessCX26SGN
Publication Date：2015-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 725-728 )