School of Life Sciences, University of Sussex, Brighton, United Kingdom.
Annu Rev Physiol. 2011;73:311-34. doi: 10.1146/annurev-physiol-012110-142228.
Although the basic principles underlying the function of the peripheral auditory system have been known for many years, the molecules required for hearing have hitherto remained elusive. Genetic approaches have recently provided unparalleled molecular insight into how the hair bundle, the hair cell's mechanosensory organelle, forms and functions. We discuss how the proteins encoded by the Usher syndrome type 1 genes form molecular complexes required for hair-bundle development and for gating the mechanotransducer channel. We show how mouse models for nonsyndromic forms of deafness involving genes encoding Triobp and stereocilin reveal, respectively, the way stereocilia rootlets contribute to the hair bundle's mechanical properties and how the hair bundle produces suppressive masking, a property that contributes to speech intelligibility. Finally, we examine how mutations in the genes encoding α- and β-tectorin reveal multiple roles for the tectorial membrane, an extracellular matrix unique to the cochlea, in stimulating hair bundles.
尽管外周听觉系统功能的基本原理已经为人所知多年，但迄今为止，听力所需的分子仍然难以捉摸。遗传方法最近为毛细胞机械感受器器官毛束的形成和功能提供了无与伦比的分子洞察力。我们讨论了由 1 型综合征耳聋基因编码的蛋白质如何形成毛束发育和机械转导通道门控所需的分子复合物。我们展示了涉及编码三磷酸鸟苷结合蛋白和立体蛋白的非综合征形式耳聋的小鼠模型如何分别揭示了根状突在毛束机械特性中的作用以及毛束如何产生抑制掩蔽，这种特性有助于言语可懂度。最后，我们研究了编码α-和β-连接蛋白的基因突变如何揭示了耳蜗特有的细胞外基质盖膜在刺激毛束方面的多种作用。
