TNNTI, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships

被引：163

作者：

Wei, Bin ^{[1
]}

Jin, J. -P. ^{[1
]}

机构：

[1] Wayne State Univ, Sch Med, Dept Physiol, 540 E Canfield St, Detroit, MI 48201 USA

来源：

GENE | 2016年 / 582卷 / 01期

基金：

美国国家卫生研究院;

关键词：

Troponin; Striated muscle; Isoform; Evolution; Alternative splicing; Restrictive proteolysis; Cardiac function; Myopathy; CARDIAC-TROPONIN-T; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; NH2-TERMINAL VARIABLE REGION; FAST SKELETAL-MUSCLE; PROTEIN-KINASE-C; METAL-BINDING CLUSTER; COMPLETE NUCLEOTIDE-SEQUENCE; GLU(180) NONSENSE MUTATION; ALPHA-TROPOMYOSIN; RESTRICTIVE CARDIOMYOPATHY;

D O I：

10.1016/j.gene.2016.01.006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 musde 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. (C) 2016 Elsevier B.V. All rights reserved.

引用

页码：1 / 13

页数：13

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