Structure and sequence of the human fast skeletal troponin T (TNNT3) gene: Insight into the evolution of the gene and the origin of the developmentally regulated isoforms

Comparative and Functional Genomics

Volumn 4, Issue 6, 2003, Pages 609-625

  Stefancsik, Raymund ^a,c   Randall, Jeffrey D ^a,d   Mao, Chengjian ^a,e   Sarkar, Satyapriya ^a,b  

^a TUFTS UNIVERSITY   (United States)

^b TUFTS UNIVERSITY   (United States)

^c INSTITUTE OF EXPERIMENTAL MEDICINE   (Hungary)

^d US Genomics   (United States)

^e UNIVERSITY OF ILLINOIS AT URBANA CHAMPAIGN   (United States)

Author keywords

Alternative and constitutive splicing of exons; Evolution of TNNT3 gene; Exon shuffling; Foetal exon; Human fast skeletal troponin T (TNNT3) gene; Muscle specific splicing enhancer; Promoter and cis elements of TNNT3; Structure and sequence of TNNT3

Indexed keywords

ADENINE; CYTOSINE; ISOPROTEIN; MYOCYTE ENHANCER FACTOR 2; MYOD PROTEIN; THYRONINE; TRANSCRIPTION FACTOR; TROPONIN I; TROPONIN T;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; BINDING SITE; CHROMOSOME 11P; CONTROLLED STUDY; CORRELATION ANALYSIS; DEVELOPMENT; DNA FLANKING REGION; DNA RESPONSIVE ELEMENT; EMBRYO; ENHANCER REGION; EXON; FETUS; GENE CONTROL; GENE EXPRESSION; GENE LOCATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC CODE; GENETIC CONSERVATION; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; INTRON; MAMMAL; MOLECULAR CLONING; MOLECULAR DYNAMICS; MOLECULAR EVOLUTION; MOUSE; NEWBORN; NONHUMAN; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PLESIOMORPHY; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN MOTIF; PROTEIN STRUCTURE; RAT; REGULATORY MECHANISM; RNA SPLICING; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; STRUCTURE ANALYSIS; TISSUE SPECIFICITY; TRANSCRIPTION REGULATION;

MAMMALIA;

EID: 0345874619     PISSN: 15316912     EISSN: None     Source Type: Journal    
DOI: 10.1002/cfg.343     Document Type: Article

References (55)

1. Altschul SF, Madden TL, Schaffer AA, et al. 1997. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res 25: 3389-3402.
2. Barlow DP. 1995. Gametic imprinting in mammals. Science 270: 1610-1613.
3. Benoist P, Mas JA, Marco R, Cervera M. 1998. Differential muscle-type expression of the Drosophila troponin T gene. A 3-base pair microexon is involved in visceral and adult hypodermic muscle specification. J Biol Chem 273: 7538-7546.
4. Boeke JD. 1997. LINEs and Alus - the polyA connection. Nature Genet 16: 6-7.
5. Breitbart RE, Nadal-Ginard B. 1986. Complete nucleotide sequence of the fast skeletal troponin T gene. Alternatively spliced exons exhibit unusual interspecies divergence. J Mol Biol 188: 313-324.
6. Breitbart RE, Nguyen HT, Medford RM, et al. 1985. Intricate combinatorial patterns of exon splicing generate multiple regulated troponin T isoforms from a single gene. Cell 41: 67-82.
7. Briggs MM, Maready M, Schmidt JM, Schachat F. 1994. Identification of a foetal exon in the human fast troponin T gene. FEBS Lett 350: 37-40.
8. Briggs MM, Schachat F. 1993. Origin of foetal troponin T: developmentally regulated splicing of a new exon in the fast troponin T gene. Dev Biol 158: 503-509.
9. Bucher EA, De La Brousse FC, Emerson CP Jr. 1989. Development and muscle-specific regulation of avian fast skeletal troponin T isoform expression by mRNA splicing. J Biol Chem 264: 12 484-12 491.
10. Cooper TA, Ordahl CP. 1985. A single cardiac troponin T gene generates embryonic and adult isoforms via developmentally regulated alternate splicing. J Biol Chem 260: 11 140-11 148.
11. Cost GJ, Boeke JD. 1998. Targeting of human retrotransposon integration is directed by the specificity of the L1 endonuclease for regions of unusual DNA structure. Biochemistry 37: 18 081-18 093.
12. Cross SH, Bird AP. 1995. CpG islands and genes. Curr Opin Genet Dev 5: 309-314.
13. Cross SH, Charlton JA, Nan X, Bird AP. 1994. Purification of CpG islands using a methylated DNA binding column. Nature Genet 6: 236-244.
14. Dao D, Frank D, Qian N, et al. 1998. IMPT1, an imprinted gene similar to polyspecific transporter and multi-drug resistance genes. Hum Mol Genet 7: 597-608.
15. Farah CS, Reinach FC. 1995. The troponin complex and regulation of muscle contraction. FASEB J 9: 755-767.
16. Firulli AB, Olson EN. 1997. Modular regulation of muscle gene transcription: a mechanism for muscle cell diversity. Trends Genet 13: 364-369.
17. Fyrberg E, Fyrberg CC, Beall C, Saville DL. 1990. Drosophila melanogaster troponin-T mutations engender three distinct syndromes of myofibrillar abnormalities. J Mol Biol 216: 657-675.
18. Gilbert W. 1978. Why genes in pieces? Nature 271: 501.
19. Gordon AM, Homsher E, Regnier M. 2000. Regulation of contraction in striated muscle. Physiol Rev 80: 853-924.
20. Hastings KEM, Bucher EA, Emerson CP Jr. 1985. Generation of troponin T isoforms by alternative RNA splicing in an avian skeletal muscle: Conserved and divergent features in birds and mammals. J Biol Chem 260: 13 699-13 703.
21. Henry I, Heyningen VV, Puech A, et al. 1993. Reassessment of breakpoints in chromosome 11p15. Cytogenet Cell Genet 62: 52-53.
22. Jha PK, Sarkar S. 1998. A recombinant monocysteine mutant (Ser to Cys-155) of fast skeletal troponin T: identification by cross-linking of a domain involved in a physiologically relevant interaction with troponins C and I. Biochemistry 37: 12 253-12 260.
23. Jin JP, Huang QQ, Yeh HI, Lin JJ. 1992. Complete nucleotide sequence and structural organization of rat cardiac troponin T gene. A single gene generates embryonic and adult isoforms via developmentally regulated alternative splicing. J Mol Biol 227: 1269-1276.
24. Long M, de Souza SJ, Gilbert W. 1995. Evolution of the intron-exon structure of eukaryotic genes. Curr Opin Genet Dev 5: 774-778.
25. 2- and COOH-terminal domains of troponin T. ATPase activation and binding to troponin I and troponin C. J Biol Chem 273: 10 594-10 601.
26. Mao C, Baumgartner AP, Jha PK, Huang TH, Sarkar S. 1996. Assignment of the human fast skeletal troponin T gene (TNNT3) to chromosome 11p15.5: evidence for the presence of 11pter in a monochromosome 9 somatic cell hybrid in NIGMS mapping panel 2. Genomics 31: 385-388.
27. Matsuoka S, Thompson JS, Edwards MC, et al. 1996. Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15. Proc Natl Acad Sci USA 93: 3026-3030.
28. 2+-dependent muscle dysfunction caused by mutation of the Caenorhabditis elegans troponin T-1 gene. J Cell Biol 143: 1201-1213.
29. Medford RM, Nguyen HT, Destree AT, Summers E, Nadal-Ginard B. 1984. A novel mechanism of alternative RNA splicing for the developmentally regulated generation of troponin T isoforms from a single gene. Cell 38: 409-421.
30. Mesnard L, Logeart D, Taviaux S, et al. 1995. Human cardiac troponin T: cloning and expression of new isoforms in the normal and failing heart. Circ Res 76: 687-692.
31. Miyamoto T, Jinno Y, Sasaki T, et al. 1996. Genomic cloning and localization to chromosome 11p15.5 of the human achaete-scute homologue 2 (ASCL2). Cytogenet Cell Genet 73: 312-314.
32. Morgan MJ, Earnshaw JC, Dhoot GK. 1993. Novel developmentally regulated exon identified in the rat fast skeletal muscle troponin T gene. J Cell Sci 106: 903-908.
33. Myers CD, Goh PY, Allen TS, Bucher EA, Bogaert T. 1996. Developmental genetic analysis of troponin T mutations in striated and nonstriated muscle cells of Caenorhabditis elegans. J Cell Biol 132: 1061-1077.
34. Patthy L. 1987. Intron-dependent evolution: preferred types of exons and introns. FEBS Lett 214: 1-7.
35. Perry SV. 1998. Troponin T: genetics, properties and function. J Muscle Res Cell Motil 19: 575-602.
36. Pettenati MJ, Haines JL, Higgins RR, et al. 1986. Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum Genet 74: 123-154.
37. Qian N, Frank D, O'Keefe D, et al. 1997. The IPL gene on chromosome 11p15.5 is imprinted in humans and mice and is similar to TDAG51, implicated in Fas expression and apoptosis. Hum Mol Genet 6: 2021-2029.
38. Ramchatesingh J, Zahler AM, Neugebauer KM, Roth MB, Cooper TA. 1995. A subset of SR proteins activates splicing of the cardiac troponin T alternative exon by direct interactions with an exonic enhancer. Mol Cell Biol 15: 4898-4907.
39. Ryan KJ, Cooper TA. 1996. Muscle-specific splicing enhancers regulate inclusion of the cardiac troponin T alternative exon in embryonic skeletal muscle. Mol Cell Biol 16: 4014-4023.
40. Sambrook J, Fritsch EF, Maniatis T. 1989. Molecular Cloning. A Laboratory Manual, 2nd edn. Cold Spring Harbour Laboratory Press: New York.
41. Samson F, de Jong PJ, Trask BJ, et al. 1992. Assignment of the human slow skeletal troponin T gene to 19q13.4 using somatic cell hybrids and fluorescence in situ hybridization analysis. Genomics 13: 1374-1375.
42. Sassaman DM, Dombroski BA, Moran JV, et al. 1997. Many human L1 elements are capable of retrotransposition. Nature Genet 16: 37-43.
43. Schaertl S, Lehrer SS, Geeves MA. 1995. Separation and characterization of the two functional regions of troponin involved in muscle thin filament regulation. Biochemistry 34: 15 890-15 894.
44. Senapathy P, Shapiro MB, Harris NL. 1990. Splice junctions, branch point sites, and exons: sequence statistics, identification and applications to genome project. Methods Enzymol 183: 252-278.
45. Sharp PA. 1981. Speculations on RNA splicing. Cell 23: 643-646.
46. Smit AF. 1996. The origin of interspersed repeats in the human genome. Curr Opin Genet Dev 6: 743-748.
47. Stefancsik R, Jha PK, Sarkar S. 1998. Identification and mutagenesis of a highly conserved domain in troponin T responsible for troponin I binding: potential role for coiled-coil interaction. Proc Natl Acad Sci USA 95: 957-962.
48. Stefancsik R. 1999. PhD thesis, Sackler Graduate School of Biomedical Sciences, Tufts University, Boston, MA, USA.
49. Thierfelder L, Watkins H, MacRae C, et al. 1994. α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 77: 701-712.
50. Tobacman LS, Lee R. 1987. Isolation and functional comparison of bovine cardiac troponin T isoforms. J Biol Chem 262: 4059-4064.
51. Walsh CP, Bestor TH. 1999. Cytosine methylation and mammalian development. Genes Dev 13: 26-34.
52. Watkins H, McKenna WJ, Thierfelder L, et al. 1995. Mutations in the genes for cardiac troponin T and α-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 332: 1058-1064.
53. Wu QL, Jha PK, Raychowdhury MK, et al. 1994. Isolation and characterization of human fast skeletal β-troponin T cDNA: comparative sequence analysis of isoforms and insight into the evolution of members of a multigene family. DNA Cell Biol 13: 217-233.
54. Yoder JA, Walsh CP, Bestor TH. 1997. Cytosine methylation and the ecology of intragenomic parasites. Trends Genet 13: 335-340.
55. Yuan L, Qian N, Tycko B. 1996. An extended region of biallelic gene expression and rodent-human synteny downstream of the imprinted H19 gene on chromosome 11p15.5. Hum Mol Genet 5: 1931-1937.