The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice
The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice
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DOI：
10.1016/j.febslet.2014.03.040
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发表时间：
2014-05-02
期刊：
影响因子：
3.5
通讯作者：
Willecke, Klaus
中科院分区：
文献类型：
--
作者：
Bosen, Felicitas;Schuetz, Melanie;Willecke, Klaus
差距连接蛋白连接蛋白30（Cx30）的独特突变可引起人类外胚层发育不良Clouston综合征。我们已经产生了一个新的小鼠品系，表达Clouston综合征突变Cx30A88V的内源性Cx30启动子的控制下。我们的研究结果表明，突变的Cx30A88V蛋白被纳入表皮的缝隙连接斑块。纯合子Cx30A88V小鼠显示过度增殖和增大的皮脂腺以及轻度掌跖角化过度。此外，与对照小鼠相比，纯合子突变小鼠显示出改变的听力特征。我们的结论是，Cx30A88V突变触发皮肤过度增殖，改变小鼠耳蜗内稳态。(C)2014年欧洲生物化学学会联合会。由Elsevier B出版。V.保留所有权利。
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. (C) 2014 Federation of European Biochemical Societies. Published by Elsevier B. V. All rights reserved.