title: The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.
abstract: Distinct mutations in the gap junction protein connexin30 (Cx30) can cause the ectodermal dysplasia Clouston syndrome in humans. We have generated a new mouse line expressing the Clouston syndrome mutation Cx30A88V under the control of the endogenous Cx30 promoter. Our results show that the mutated Cx30A88V protein is incorporated in gap junctional plaques of the epidermis. Homozygous Cx30A88V mice reveal hyperproliferative and enlarged sebaceous glands as well as a mild palmoplantar hyperkeratosis. Additionally, homozygous mutant mice show an altered hearing profile compared to control mice. We conclude that the Cx30A88V mutation triggers hyperproliferation in the skin and changes the cochlear homeostasis in mice.
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: LIMES (Life and Medical Science Institute), Molecular Genetics, University of Bonn, 53115 Bonn, Germany.
authors.forename: Melanie
authors.initials: M
authors.lastname: Schütz
authors.affiliation: LIMES (Life and Medical Science Institute), Molecular Genetics, University of Bonn, 53115 Bonn, Germany.
authors.forename: Anna
authors.initials: A
authors.lastname: Beinhauer
authors.affiliation: InnerEarLab, Department of Otolaryngology, Göttingen University Medical School, 37099 Göttingen, Germany.
authors.forename: Nicola
authors.initials: N
authors.lastname: Strenzke
authors.affiliation: Institute of Anatomy, University of Bonn, UKB, 53115 Bonn, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Franz
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; D002462:Cell Membrane / Q000378:metabolism; D049109:Cell Proliferation; D002478:Cells, Cultured; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D056726:Genetic Association Studies; D018859:Hair Follicle / Q000378:metabolism / Q000473:pathology; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D020125:Mutation, Missense; D012627:Sebaceous Glands / Q000473:pathology*
chemical_list: D000075302:Connexin 30; D017630:Connexins; C100629:Gjb6 protein, mouse
keywords: Clouston syndrome; Connexin30; Gap junction; Point mutation; Transgenic mouse line