LIMES (Life and Medical Science Institute), Molecular Genetics, University of Bonn, 53115 Bonn, Germany.
InnerEarLab, Department of Otolaryngology, Göttingen University Medical School, 37099 Göttingen, Germany.
FEBS Lett. 2014 May 2;588(9):1795-801. doi: 10.1016/j.febslet.2014.03.040. Epub 2014 Mar 29.
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.
缝隙连接蛋白连接蛋白 30（Cx30）中的独特突变可导致人类外胚层发育不良克劳斯顿综合征。我们已经生成了一条新的表达克劳斯顿综合征突变 Cx30A88V 的小鼠品系，该突变受内源性 Cx30 启动子的控制。我们的结果表明，突变的 Cx30A88V 蛋白被纳入表皮的缝隙连接斑中。Cx30A88V 纯合子小鼠表现出过度增殖和增大的皮脂腺，以及轻度掌跖过度角化。此外，与对照小鼠相比，纯合突变小鼠的听力特征发生改变。我们得出结论，Cx30A88V 突变可引发皮肤过度增殖，并改变小鼠耳蜗内环境的稳定。
