The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice
| Autor: | Klaus Willecke, Anna Beinhauer, Felicitas Bosen, Thomas Franz, Nicola Strenzke, Melanie Schütz |
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| Rok vydání: | 2014 |
| Předmět: |
Sebaceous gland
Ectodermal dysplasia medicine.medical_specialty Pathology Transgenic mouse line Gap junction Mutant Mutation Missense Biophysics Connexin Mice Transgenic Biology medicine.disease_cause Biochemistry Connexins Mice Sebaceous Glands Ectodermal Dysplasia Structural Biology Internal medicine Connexin 30 Genetics medicine Animals Humans Hearing Loss Molecular Biology Cells Cultured Genetic Association Studies Cell Proliferation Mutation Point mutation Epidermis (botany) Cell Membrane Cell Biology medicine.disease Clouston syndrome 3. Good health medicine.anatomical_structure Endocrinology Hair Follicle Connexin30 Homeostasis |
| Zdroj: | FEBS Letters. 588:1795-1801 |
| ISSN: | 0014-5793 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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