干扰Cdh23外基子68拼接导致老鼠逐渐听力损失,因为它影响了尖端链的稳定性
Nana Li1, Shuang Liu2, Dange Zhao3
1Shandong Provincial Key Laboratory of Animal Cells and Developmental Biology and Key Laboratory for Experimental Teratology of the Ministry of Education, School of Life Sciences, Shandong University, Qingdao, Shandong 266237, China.
概括
在Cadherin 23 (CDH23) 中包含exon 68对于毛细胞尖端链的稳定性至关重要,防止渐进性听力损失. 这种外显子调节蛋白质凝聚物形成,这对听觉功能至关重要.
科学领域:
- 听觉神经科学 听觉神经科学
- 分子生物学分子生物学
- 遗传学 遗传学 是一个
背景情况:
- 内耳毛细胞具有F-actin立体,通过尖端链接连接,通过机电转导 (MET) 通道进入.
- 卡德林23 (CDH23) 是尖端链的关键组成部分,在上尖端链密度 (UTLD) 中与氨酸相互作用.
研究的目的:
- 为了研究在Cadherin 23 (CDH23) 基因中对外基因68的替代拼接的作用.
- 为了确定外68的包含/排除对尖链稳定性和听力功能的影响.
主要方法:
- 生产和分析缺乏Cdh23外68的转基因小鼠.
- 评估尖端链路稳定性和听觉功能 (听力损失).
- 研究涉及CDH23和harmonin的蛋白质-蛋白质相互作用和凝结物形成.
主要成果:
- 排除Cdh23 exon 68并没有影响最初的尖端链形成,但损害了它们的稳定性.
- 缺少Cdh23外因子68的小鼠表现出渐进的和噪音引起的听力损失.
- CDH23的细胞质尾巴与外基子68,但不是没有它,在相分离中介的凝结物形成中与氨酸合作.
结论:
- 包括Cdh23外因子68对于保持毛发细胞中尖链稳定性至关重要.
- 这种稳定性是通过调节UTLD组件的凝结形成来实现的,这会影响听觉功能.
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