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Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro by F. Rouan; C. W. Lo; A. Fertala; M. Wahl; M. Jost; U. Rodeck; J. Uitto; G. Richard is a Medicine article available to read on EtoBox.
What is Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro about?
**Abstract:** Recently, we identified several missense mutations of the connexin gene __GJB3__ encoding connexin 31 (Cx31) in erythrokeratodermia variabilis (EKV), an autosomal dominant skin disorder. These mutations include G12D, which replaces a conserved glycine residue in the amino‐terminus of Cx31 and is associated with a severe EKV phenotype. In contrast, the biologic relevance of the __GJB3__ sequence variant R32W located in the first transmembrane domain of Cx31 is disputed. To examine the effects of these sequence variants on Cx31 biogenesis and gap junction activity we expressed wild type and mutant Cx31‐Flag constructs in HeLa cells. Using immunostaining, all expression variants were detected in the cytoplasm and in a punctate pattern at the cell surface, indicating that G12D and R32W did not interfere with either protein synthesis or transport to the cell membrane. Similarly, oligomerization into hemichannels appeared not impaired when expressing either Cx31 mutant as assessed by size exclusion chromatography, immunoblotting and immunostaining. However, dye transfer experiments and monitoring of intracellular calcium levels in response to serum stimulation revealed that
Who reads Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- F. Rouan; C. W. Lo; A. Fertala; M. Wahl; M. Jost; U. Rodeck; J. Uitto; G. Richard
- Publisher
- John Wiley and Sons; Wiley (Blackwell Publishing); Blackwell Publishing Inc.; Wiley (ISSN 0906-6705)
- Published
- 2003
- Language
- EN
- Field
- Medicine (Health Sciences)