GENOMIC ORGANIZATION, ALTERNATIVE SPLICING AND POLYMORPHISMS OF THE HUMAN CARDIAC TROPONIN-T GENE

Troponin T (TnT) is a component of the troponin complex which regulate s muscle contraction in response to alterations in intracellular calci um ion concentration. In human heart, multiple isoforms of cardiac TnT have been described on the basis of antibody studies and molecular cl oning 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 diversit y is achieved by the use of both alternative exons and alternative acc eptor sites and present the organisation of the human TN.RITZ gene, wh ich is composed of 17 exons spread over 17 kb. A potential structure o f the promoter region is also presented, Several polymorphisms in both the exonic and intronic regions were identified, some of which may ac t as modulators of the expression of this gene, (C) 1998 Academic Pres s.