Please use this identifier to cite or link to this item: https://hdl.handle.net/11147/5803
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dc.contributor.authorShuja, Zunaira-
dc.contributor.authorLi, Leping-
dc.contributor.authorGupta, Shashank-
dc.contributor.authorMeşe, Gülistan-
dc.contributor.authorWhite, Thomas W.-
dc.date.accessioned2017-06-29T07:24:21Z-
dc.date.available2017-06-29T07:24:21Z-
dc.date.issued2016-01-
dc.identifier.citationShuja, Z., Li, L., Gupta, S., Meşe, G., and White, T.W. (2016). Connexin26 mutations causing palmoplantar keratoderma and deafness interact with connexin43, modifying gap junction and hemichannel properties. Journal of Investigative Dermatology, 136(1), 225-235. doi:10.1038/JID.2015.389en_US
dc.identifier.issn0022-202X-
dc.identifier.issn1523-1747-
dc.identifier.urihttp://doi.org/10.1038/JID.2015.389-
dc.identifier.urihttp://hdl.handle.net/11147/5803-
dc.description.abstractMutations in GJB2 (connexin [Cx]26) cause either deafness or deafness associated with skin diseases. That different disorders can be caused by distinct mutations within the same gene suggests that unique channel activities are influenced by each class of mutation. We have examined the functional characteristics of two human mutations, Cx26-H73R and Cx26-S183F, causing palmoplantar keratoderma (PPK) and deafness. Both failed to form gap junction channels or hemichannels when expressed alone. Coexpression of the mutants with wild-type Cx43 showed a transdominant inhibition of Cx43 gap junction channels, without reductions in Cx43 protein synthesis. In addition, the presence of mutant Cx26 shifted Cx43 channel gating and kinetics toward a more Cx26-like behavior. Coimmunoprecipitation showed Cx43 being pulled down more efficiently with mutant Cx26 than wild-type, confirming the enhanced formation of heteromeric connexons. Finally, the formation of heteromeric connexons resulted in significantly increased Cx43 hemichannel activity in the presence of Cx26 mutants. These findings suggest a common mechanism whereby Cx26 mutations causing PPK and deafness transdominantly influence multiple functions of wild-type Cx43. They also implicate a role for aberrant hemichannel activity in the pathogenesis of PPK and further highlight an emerging role for Cx43 in genetic skin diseases. © 2015 The Authors. Published by Elsevier, Inc. on behalf of the Society for Investigative Dermatology.en_US
dc.description.sponsorshipNational Institutes of Health from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01 AR59505)en_US
dc.language.isoenen_US
dc.publisherNature Publishing Groupen_US
dc.relation.ispartofJournal of Investigative Dermatologyen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectConnexin 26en_US
dc.subjectGap junction proteinen_US
dc.subjectConnexin 43en_US
dc.subjectGenetic predispositionen_US
dc.subjectDFNA3 proteinen_US
dc.subjectPalmoplantar keratodermaen_US
dc.titleConnexin26 mutations causing palmoplantar keratoderma and deafness interact with connexin43, modifying gap junction and hemichannel propertiesen_US
dc.typeArticleen_US
dc.authoridTR109363en_US
dc.institutionauthorMeşe, Gülistan-
dc.departmentIzmir Institute of Technology. Molecular Biology and Geneticsen_US
dc.identifier.volume136en_US
dc.identifier.issue1en_US
dc.identifier.startpage225en_US
dc.identifier.endpage235en_US
dc.identifier.wosWOS:000377952900033en_US
dc.identifier.scopus2-s2.0-84959208633en_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.doi10.1038/JID.2015.389-
dc.identifier.pmid26763442en_US
dc.relation.doi10.1038/JID.2015.389en_US
dc.coverage.doi10.1038/JID.2015.389en_US
dc.identifier.scopusqualityQ1-
item.openairetypeArticle-
item.languageiso639-1en-
item.fulltextWith Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.grantfulltextopen-
crisitem.author.dept04.03. Department of Molecular Biology and Genetics-
Appears in Collections:Molecular Biology and Genetics / Moleküler Biyoloji ve Genetik
PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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