TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.
TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.
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DOI：
10.1016/j.gene.2016.01.006
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发表时间：
2016-05-10
期刊：
影响因子：
3.5
通讯作者：
Jin JP
中科院分区：
文献类型：
--
作者：
Wei B;Jin JP
肌钙蛋白T （TnT）在肌动蛋白细丝功能的钙调节中起核心作用，对横纹肌的收缩至关重要。在脊椎动物中已经进化出三个同源基因来编码三种肌肉类型特异性的TnT亚型：TNNT1编码慢速骨骼肌TnT， TNNT2编码心肌TnT， TNNT3编码快速骨骼肌TnT。在发育和肌肉适应各种生理和病理条件的过程中，选择性剪接和翻译后修饰赋予了TnT额外的结构和功能变化。本文就TnT异构体基因及其分子进化、选择性剪接、发育调控、TnT蛋白的结构功能关系、翻译后修饰、肌病突变和异常剪接等方面进行综述。目的是对当前的知识进行简要总结，并为未来的研究和转化应用提供一些观点。
Troponin T (TnT) is a central player in the calcium regulation of actin thin filament function and is essential for the contraction of striated muscles. Three homologous genes have evolved in vertebrates to encode three muscle type-specific TnT isoforms: TNNT1 for slow skeletal muscle TnT, TNNT2 for cardiac muscle TnT, and TNNT3 for fast skeletal muscle TnT. Alternative splicing and posttranslational modifications confer additional structural and functional variations of TnT during development and muscle adaptation to various physiological and pathological conditions. This review focuses on the TnT isoform genes and their molecular evolution, alternative splicing, developmental regulation, structure-function relationships of TnT proteins, posttranslational modifications, and myopathic mutations and abnormal splicing. The goal is to provide a concise summary of the current knowledge and some perspectives for future research and translational applications.