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https://hdl.handle.net/11147/4898
Title: | The Cx26-G45e Mutation Displays Increased Hemichannel Activity in a Mouse Model of the Lethal Form of Keratitis-Ichthyosis Syndrome | Authors: | Meşe, Gülistan Sellitto, Caterina Li, Leping Wang, Hongzhan Valiunas, Virginijus Richard, Gabriele Brink, Peter R. White, Thomas W. |
Keywords: | Connexin 26 Doxycycline GJB2 mutations Syndrome KID Enhanced green fluorescent protein Vohwinkel syndrome |
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. | URI: | http://doi.org/10.1091/mbc.E11-09-0778 http://hdl.handle.net/11147/4898 |
ISSN: | 1059-1524 1939-4586 |
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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