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      https://www.ias.ac.in/article/fulltext/jgen/096/06/0969-0976

    • Keywords

       

      cataract; Cx46; mutant; gap junction

    • Abstract

       

      Connexin 46 (Cx46) is important for gap junction channels formation which plays crucial role in the preservation of lens homeostasis and transparency. Previously, we have identified a missense mutation (p.V44M) of Cx46 in a congenital cataractfamily. This study aims at dissecting the potential pathogenesis of the causative mutant of cataract. Plasmids carrying wild-type (wt) and mutant (V44M) of Cx46 were constructed and expressed in Hela cells respectively.Western blotting and fluorescence microscopy were applied to analyse the expression and subcellular localization of recombinant proteins, respectively. Scrape loading dye transferexperiment was performed to detect the transfer capability of gap junction channels among cells expressed V44Mmutant. The results demonstrated that in transfected Hela cells, both wt-Cx46 and Cx46 V44M were localized abundantly in the plasma membrane. No significant difference was found between the protein expressions of the two types of Cx46. The fluorescent localization assay revealedthe plaque formation, significantly reduced in the cells expressing Cx46 V44M. Immunoblotting analysis demonstrated that formation of Triton X-100 insoluble complex decreased obviously in mutant Cx46. Additionally, the scrape-loading dye-transfer experiment showed a lower dye diffusion distance of Cx46 V44M cells, which indicates that the gap junction intercellular communication activitywas aberrant. Human Cx46 V44M mutant causing cataracts result in abnormally decreased formation of gap junction plaques and impaired gap junction channel function.

    • Author Affiliations

       

      LIJUAN CHEN1 DONGMEI SU2 SIJIA LI1 LINA GUAN2 CUIGE SHI2 DIANJUN LI3 SHANSHAN HU2 XU MA2

      1. Department of Ophthalmology, Hongqi Hospital of Mudanjiang Medical College, Mudanjiang 157000, Heilongjiang Province, People’s Republic of China
      2. Department of Genetics, National Research Institute for Family Planning, Beijing 100081, People’s Republic of China
      3. Department of Immunology, Basic Medical College of Harbin Medical University, Harbin 150081, People’s Republic of China
    • Dates

       
  • Journal of Genetics | News

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