TMC function in hair cell transduction.

TMC function in hair cell transduction.
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DOI:
10.1016/j.heares.2014.01.001
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发表时间:
2014-05
期刊:
影响因子:
2.8
通讯作者:
Asai, Yukako
Asai, Yukako
中科院分区:
医学1区
文献类型:
--
作者:
Holt, Jeffrey R.;Pan, Bifeng;Koussa, Mounir A.;Asai, Yukako

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跨膜通道样蛋白1和2是毛细胞机械传导所必需的,但其确切功能是有争议的。越来越多的证据支持TMC 1和TMC 2作为转导复合物的组分的直接作用。然而,一些重要的问题仍然存在,并提出了替代假设。在这里,我们提出了一个历史性的概述Tmc基因的识别和克隆,在TMC1的突变,导致耳聋的小鼠和人类的讨论和Tmc基因超家族的其他成员的简要回顾。我们还研究了Tmc mRNA的表达和蛋白产物的定位。本文重点介绍TMC蛋白的潜在功能以及贝多芬小鼠的证据,这些证据表明TMC 1在毛细胞机械转导中发挥直接作用。支持替代解释的数据也被考虑。文章最后讨论了TMC研究的突出问题和未来的发展方向。本文是题为“2014年年度评论”的特刊的一部分。
Transmembrane channel-like (TMC) proteins 1 and 2 are necessary for hair cell mechanotransduction but their precise function is controversial. A growing body of evidence supports a direct role for TMC1 and TMC2 as components of the transduction complex. However, a number of important questions remain and alternate hypotheses have been proposed. Here we present an historical overview of the identification and cloning of Tmc genes, a discussion of mutations in TMC1 that cause deafness in mice and humans and a brief review of other members of the Tmc gene superfamily. We also examine expression of Tmc mRNAs and localization of the protein products. The review focuses on potential functions of TMC proteins and the evidence from Beethoven mice that suggests a direct role for TMC1 in hair cell mechanotransduction. Data that support alternate interpretations are also considered. The article concludes with a discussion of outstanding questions and future directions for TMC research. This article is part of a Special Issue entitled “Annual Reviews 2014”.
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