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Article: Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity

TitleConnexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity
Authors
KeywordsChemicals And Cas Registry Numbers
Issue Date2004
PublisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Citation
Human Molecular Genetics, 2004, v. 13 n. 16, p. 1703-1714 How to Cite?
AbstractClouston syndrome or hidrotic ectodermal dysplasia (HED) is a rare dominant genodermatosis characterized by palmoplantar hyperkeratosis, generalized alopecia and nail defects. The disease is caused by mutations in the human GJB6 gene which encodes the gap junction protein connexin30 (Cx30). To gain insight into the molecular mechanisms underlying HED, we have analyzed the consequences of two of these mutations (G11R Cx30 and A88V Cx30) on the functional properties of the connexons they form. Here, we show that the distribution of Cx30 is similar in affected palmoplantar skin and in normal epidermis. We further demonstrate that the presence of the wild-type protein (wt Cx30) improves the trafficking of mutated Cx30 to the plasma membrane where both G11R and A88V Cx30 co-localize with wt Cx30 and form functional intercellular channels. The electrophysiological properties of channels made of G11R and A88V Cx30 differ slightly from those of wt Cx30 but allow for dye transfer between transfected HeLa cells. Finally, we document a gain of function of G11R and A88V Cx30, which form functional hemichannels at the cell surface and, when expressed in HeLa cells, generate a leakage of ATP into the extracellular medium. Such increased ATP levels might act as a paracrine messenger that, by altering the epidermal factors which control the proliferation and differentiation of keratinocytes, may play an important role in the pathophysiological processes leading to the HED phenotype. © Oxford University Press 2004; all rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/132700
ISSN
2015 Impact Factor: 5.985
2015 SCImago Journal Rankings: 4.288
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorEssenfelder, GMen_HK
dc.contributor.authorBruzzone, Ren_HK
dc.contributor.authorLamartine, Jen_HK
dc.contributor.authorCharollais, Aen_HK
dc.contributor.authorBlanchetBardon, Cen_HK
dc.contributor.authorBarbe, MTen_HK
dc.contributor.authorMeda, Pen_HK
dc.contributor.authorWaksman, Gen_HK
dc.date.accessioned2011-03-28T09:28:22Z-
dc.date.available2011-03-28T09:28:22Z-
dc.date.issued2004en_HK
dc.identifier.citationHuman Molecular Genetics, 2004, v. 13 n. 16, p. 1703-1714en_HK
dc.identifier.issn0964-6906en_HK
dc.identifier.urihttp://hdl.handle.net/10722/132700-
dc.description.abstractClouston syndrome or hidrotic ectodermal dysplasia (HED) is a rare dominant genodermatosis characterized by palmoplantar hyperkeratosis, generalized alopecia and nail defects. The disease is caused by mutations in the human GJB6 gene which encodes the gap junction protein connexin30 (Cx30). To gain insight into the molecular mechanisms underlying HED, we have analyzed the consequences of two of these mutations (G11R Cx30 and A88V Cx30) on the functional properties of the connexons they form. Here, we show that the distribution of Cx30 is similar in affected palmoplantar skin and in normal epidermis. We further demonstrate that the presence of the wild-type protein (wt Cx30) improves the trafficking of mutated Cx30 to the plasma membrane where both G11R and A88V Cx30 co-localize with wt Cx30 and form functional intercellular channels. The electrophysiological properties of channels made of G11R and A88V Cx30 differ slightly from those of wt Cx30 but allow for dye transfer between transfected HeLa cells. Finally, we document a gain of function of G11R and A88V Cx30, which form functional hemichannels at the cell surface and, when expressed in HeLa cells, generate a leakage of ATP into the extracellular medium. Such increased ATP levels might act as a paracrine messenger that, by altering the epidermal factors which control the proliferation and differentiation of keratinocytes, may play an important role in the pathophysiological processes leading to the HED phenotype. © Oxford University Press 2004; all rights reserved.en_HK
dc.languageengen_US
dc.publisherOxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/en_HK
dc.relation.ispartofHuman Molecular Geneticsen_HK
dc.subjectChemicals And Cas Registry Numbersen_US
dc.titleConnexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activityen_HK
dc.typeArticleen_HK
dc.identifier.emailBruzzone, R: bruzzone@hkucc.hku.hken_HK
dc.identifier.authorityBruzzone, R=rp01442en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1093/hmg/ddh191en_HK
dc.identifier.pmid15213106-
dc.identifier.scopuseid_2-s2.0-4444379731en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-4444379731&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume13en_HK
dc.identifier.issue16en_HK
dc.identifier.spage1703en_HK
dc.identifier.epage1714en_HK
dc.identifier.isiWOS:000222880700003-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridEssenfelder, GM=8306249900en_HK
dc.identifier.scopusauthoridBruzzone, R=7006793327en_HK
dc.identifier.scopusauthoridLamartine, J=6603244877en_HK
dc.identifier.scopusauthoridCharollais, A=6603118851en_HK
dc.identifier.scopusauthoridBlanchetBardon, C=7005829192en_HK
dc.identifier.scopusauthoridBarbe, MT=7005131360en_HK
dc.identifier.scopusauthoridMeda, P=7005822187en_HK
dc.identifier.scopusauthoridWaksman, G=55239324000en_HK

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