2001/01/01 by John Common, David L. Becker, Wei‐Li Di +4 · 3 citations
Biochemistry, Genetics and Molecular Biology · Social Sciences · #Anatomy #Biology #Cell biology #Cell culture #Connexin #Connexins and lens biology #Economics #European union #Gap junction #Gene #Genetics #Human Rights and Immigration #Inner ear #International trade #Intracellular #Ion channel regulation and function #Keratinocyte #Mutant #Mutation #Nicotinic Acetylcholine Receptors Study #Political science #Transfection #Wild type
paper · doi:10.1016/s0006-291x(02)02517-2
published in Papeles y memorias de la Real Academia de Ciencias Morales y Políticas 298(10), 174-189 (Elsevier BV)
openalex publication_date 2001/01/01 · openalex created_date 2016/06/24 · openalex updated_date 2026/04/28
Connexin 30 (Cx30) is a component of the gap junction complex. Dominant and recessive mutations in the GJB6 gene encoding Cx30 are associated with a variety of human inherited diseases primarily affecting the epidermis, hair, nail, and/or the inner ear. The underlying mechanism of disease associated with different GJB6 mutations such as the disruption of gap junction mediated intercellular communication is unknown. Towards understanding these disease mechanisms, transfection studies were performed in a keratinocyte cell line and in HeLa cells using EGFP tagged wildtype Cx30 and mutant Cx30 constructs harbouring dominant disease-associated GJB6 mutations. For all three of the skin disease-associated Cx30 mutations investigated, impaired trafficking of the protein to the plasma membrane was observed thus preventing the formation of functional Cx30 gap junctions. In contrast, the deafness-associated mutation T5M-Cx30/EGFP trafficked to the membrane but defective channel activity was observed following dye transfer studies.