Please use this identifier to cite or link to this item:
Title: The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome
Authors: Meşe, Gülistan
Sellitto, Caterina
Li, Leping
Wang, Hongzhan
Valiunas, Virginijus
Richard, Gabriele
Brink, Peter R.
White, Thomas W.
Keywords: Connexin 26
GJB2 mutations
Syndrome KID
Enhanced green fluorescent protein
Vohwinkel syndrome
Issue Date: 15-Dec-2011
Publisher: American Society for Cell Biology
Source: Meşe, G., Sellitto, C., Li, L., Wang, H.-Z., Valiunas, V., Richard, G., Brink, P. R., and White, T. W. (2011). The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. American Society for Cell Biology, 22(24), 4776-4786. doi:10.1091/mbc.E11-09-0778
Abstract: Mutations in the GJB2 gene (Cx26) cause deafness in humans. Most are loss-of-function mutations and cause nonsyndromic deafness. Some mutations produce a gain of function and cause syndromic deafness associated with skin disorders, such as keratitis-ichthyosis-deafness syndrome (KIDS). Cx26-G45E is a lethal mutation linked to KIDS that forms constitutively active connexin hemichannels. The pathomechanism(s) by which mutant Cx26 hemichannels perturb normal epidermal cornification are poorly understood. We created an animal model for KIDS by generating an inducible transgenic mouse expressing Cx26-G45E in keratinocytes. Cx26-G45E mice displayed reduced viability, hyperkeratosis, scaling, skin folds, and hair loss. Histopathology included hyperplasia, acanthosis, papillomatosis, increased cell size, and osteal plugging. These abnormalities correlated with human KIDS pathology and were associated with increased hemichannel currents in transgenic keratinocytes. These results confirm the pathogenic nature of the G45E mutation and provide a new model for studying the role of aberrant connexin hemichannels in epidermal differentiation and inherited connexin disorders.
ISSN: 1059-1524
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

Files in This Item:
File Description SizeFormat 
4898.pdfMakale2.94 MBAdobe PDFThumbnail
Show full item record

CORE Recommender


checked on Dec 2, 2023


checked on Jun 17, 2023

Page view(s)

checked on Dec 4, 2023


checked on Dec 4, 2023

Google ScholarTM



Items in GCRIS Repository are protected by copyright, with all rights reserved, unless otherwise indicated.