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Int J Mol Sci 2023 Jan 22;243:. doi: 10.3390/ijms24032222.
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Increased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis.

Crouthamel OE , Li L , Dilluvio MT , White TW .

Mutations in the GJA1 gene that encodes connexin43 (Cx43) cause several rare genetic disorders, including diseases affecting the epidermis. Here, we examined the in vitro functional consequences of a Cx43 mutation, Cx43-G38E, linked to a novel human phenotype of hypotrichosis, follicular keratosis and hyperostosis. We found that Cx43-G38E was efficiently translated in Xenopus oocytes and localized to gap junction plaques in transfected HeLa cells. Cx43-G38E formed functional gap junction channels with the same efficiency as wild-type Cx43 in Xenopus oocytes, although voltage gating of the gap junction channels was altered. Notably, Cx43-G38E significantly increased membrane current flow through the formation of active hemichannels when compared to wild-type Cx43. These data demonstrate the association of increased hemichannel activity to a connexin mutation linked to a skeletal-cutaneous phenotype, suggesting that augmented hemichannel activity could play a role in skin and skeletal disorders caused by human Cx43 mutations.

PubMed ID: 36768546
PMC ID: PMC9916973
Article link: Int J Mol Sci
Grant support: [+]

Species referenced: Xenopus laevis
Genes referenced: gja1
GO keywords: gap junction [+]

Disease Ontology terms: skin disease [+]

Article Images: [+] show captions
References [+] :
Barrio, Gap junctions formed by connexins 26 and 32 alone and in combination are differently affected by applied voltage. 1991, Pubmed, Xenbase