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      https://www.ias.ac.in/article/fulltext/jgen/094/02/0221-0229

    • Keywords

       

      cataract; connexin 50; mutant channel; hemichannel.

    • Abstract

       

      This study was designed to detect the expression, detergent resistance, subcellular localization, and channel and hemichannel functions of mutant Cx50 to understand the forming mechanism for inducing congenital cataract by a novel mutation p.S276F in connexin 50 (Cx50) reported previously by us. HeLa and human lens epithelial (HLE) cells were transfected with wild-type Cx50 and mutant Cx50 (S276F). We examined the functional characteristics of mutant Cx50 (S276F) in comparison with those of wild-type Cx50 using immunoblot, confocal fluorescence microscopy, dye transfer analysis and dye uptake assay. The mutant and wild-type Cx50 were expressed in equal levels and could efficiently localize to the plasma membrane without transportation and assembly problems. Scrape loading dye transfer was significantly evident in cells transfected with wild-type Cx50 compared to those in cells transfected with mutant Cx50 and cotransfected with wild-type and mutant Cx50. The dye uptake was found to be significantly lower in cells transfected with mutant Cx50 than in cells transfected with wild-type Cx50 and cells cotransfected with wild-type and mutant Cx50. The transfected HeLa and HLE cell lines showed similar performance in all the experiments. These results indicated that the mutant Cx50 (S276F) might inhibit the function of gap junction channel in a dominant negative manner, but inhibit the hemichannel function in a recessive negative manner.

    • Author Affiliations

       

      Yuanyuan Liu1 2 Chen Qiao3 Tanwei Wei3 Fang Zheng1 Shuren Guo1 Qiang Chen1 Ming Yan1 3 Xin Zhou1

      1. Center for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Donghu Road 169#, Wuhan, Hubei 430071, People’s Republic of China
      2. Hubei Cancer Research Institute, Hubei Cancer Hospital of Wuhan University, Zhuodaoquan South Road 116#, Wuhan, HuBei 430079, People’s Republic of China
      3. Department of Ophthalmology, Zhongnan Hospital of Wuhan University, Donghu Road 169#, Wuhan, Hubei 430071, People’s Republic of China
    • Dates

       
  • Journal of Genetics | News

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