Genomic organisation, alternative splicing and polymorphisms of the human cardiac troponin T gene
Genomic organisation, alternative splicing and polymorphisms of the human cardiac troponin T gene
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DOI：
10.1006/jmcc.1998.0698
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发表时间：
1998-06-01
影响因子：
5
通讯作者：
Schwartz, K
中科院分区：
文献类型：
--
作者：
Farza, H;Townsend, PJ;Schwartz, K
肌钙蛋白T（TnT）是肌钙蛋白复合物的一种组分，其响应于细胞内钙离子浓度的改变而调节肌肉收缩。在人类心脏中，基于抗体研究和相应cDNA的分子克隆，已描述了心脏TnT的多种异构体，这些异构体均来源于位于染色体1q32上的单个基因TNNT 2的转录，并通过选择性剪接产生，我们在这里表明，同种型多样性是通过使用替代外显子和替代受体位点来实现的，并呈现了人类基因组的组织结构。TN.RITZ基因由17个外显子组成，分布在17 kb上。还提出了启动子区的潜在结构，在外显子和内含子区中鉴定了几种多态性，其中一些可能作为该基因表达的调节剂，（C）1998 Academic Press。
Troponin T (TnT) is a component of the troponin complex which regulates muscle contraction in response to alterations in intracellular calcium ion concentration. In human heart, multiple isoforms of cardiac TnT have been described on the basis of antibody studies and molecular cloning of corresponding cDNAs, These isoforms are all derived from the transcription of a single gene, TNNT2, located on chromosome 1q32, and generated by alternative splicing, We show here that isoform diversity is achieved by the use of both alternative exons and alternative acceptor sites and present the organisation of the human TN.RITZ gene, which is composed of 17 exons spread over 17 kb. A potential structure of the promoter region is also presented, Several polymorphisms in both the exonic and intronic regions were identified, some of which may act as modulators of the expression of this gene, (C) 1998 Academic Press.