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

ABSTRACT:

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

SUBMITTER: Shi X 

PROVIDER: S-EPMC6002600 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature