title: Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F.
abstract: The keratitis-ichthyosis-deafness (KID) syndrome is caused by mutations in the gap junctional channel protein connexin 26 (Cx26), among them the mutation Cx26S17F. Heterozygous Cx26S17F mice resemble the human KID syndrome, i.e. exhibiting epidermal hyperplasia and hearing impairments. Newborn Cx26S17F mice show a defective epidermal water barrier as well as altered epidermal lipid secretion and location. Linoleoyl ω-esterified ceramides are strongly decreased on the skin surface of Cx26S17F mice. Moreover, the epidermal calcium gradient is altered in the mutant mice. These alterations may be caused by an abnormal Cx26S17F channel function that leads to a defective epidermal water barrier, which in turn may trigger the hyperproliferation seen in the KID syndrome.
authors.affiliation: LIMES (Life and Medical Science Institute), Molecular Genetics, University of Bonn, 53115 Bonn, Germany.
authors.forename: Felicitas
authors.initials: F
authors.lastname: Bosen
authors.affiliation: Department of Dermatology, SF-VAMC and UCSF, San Francisco, CA, USA.
authors.forename: Anna
authors.initials: A
authors.lastname: Celli
authors.affiliation: Department of Dermatology, SF-VAMC and UCSF, San Francisco, CA, USA.
authors.forename: Debra
authors.initials: D
authors.lastname: Crumrine
authors.affiliation: Institute of Molecular Physiology and Biotechnology of Plants, University of Bonn, Germany.
authors.forename: Katharina
authors.initials: K
authors.lastname: vom Dorp
authors.affiliation: LIMES (Life and Medical Science Institute), Molecular Genetics, University of Bonn, 53115 Bonn, Germany.
authors.forename: Philipp
authors.initials: P
authors.lastname: Ebel
authors.affiliation: Electron Microscopy Unit, Imaging Center Essen, University Clinic Essen, Germany.
authors.forename: Holger
authors.initials: H
authors.lastname: Jastrow
authors.affiliation: Institute of Molecular Physiology and Biotechnology of Plants, University of Bonn, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Dörmann
authors.affiliation: Electron Microscopy Unit, Imaging Center Essen, University Clinic Essen, Germany.
authors.forename: Elke
authors.initials: E
authors.lastname: Winterhager
authors.affiliation: Department of Dermatology, SF-VAMC and UCSF, San Francisco, CA, USA.
authors.forename: Theodora
authors.initials: T
authors.lastname: Mauro
authors.affiliation: LIMES (Life and Medical Science Institute), Molecular Genetics, University of Bonn, 53115 Bonn, Germany. Electronic address: k.willecke@uni-bonn.de.
authors.forename: Klaus
authors.initials: K
authors.lastname: Willecke
mesh_terms: D000818:Animals; D002118:Calcium / Q000378:metabolism*; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000378:metabolism*; D004195:Disease Models, Animal; D004817:Epidermis / Q000378:metabolism*; D005260:Female; D007057:Ichthyosis / Q000378:metabolism*; D007634:Keratitis / Q000378:metabolism*; D050356:Lipid Metabolism; D008297:Male; D051379:Mice; D008856:Microscopy, Fluorescence
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; C000607043:Gjb2 protein, mouse; D000072259:Connexin 26; D002118:Calcium
keywords: Connexin 26; Epidermal calcium gradient; Epidermal ceramides; Epidermal water barrier defect; Keratitis–ichthyosis–deafness syndrome; Transgenic mouse mutant