Alternative promoter usage and splicing of the human SCN5A gene contribute to transcript heterogeneity

DNA and Cell Biology

Volumn 29, Issue 10, 2010, Pages 577-587

  Van Stuijvenberg, Leonie ^a   Yildirim, Cansu ^a   Kok, Bart G J M ^a   Van Veen, Toon A B ^a   Varró, András ^b   Winckels, Stephan K G ^a   Vos, Marc A ^a   Bierhuizen, Marti F A ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY OF SZEGED   (Hungary)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL NAV1.5; ISOPROTEIN; MUSCLE PROTEIN; SCN5A PROTEIN, HUMAN; SCN5A PROTEIN, RAT; SODIUM CHANNEL; START CODON;

5' UNTRANSLATED REGION; AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; EXON; FETUS HEART; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC HETEROGENEITY; GENETIC REGULATION; HEART MUSCLE CELL; HUMAN; HUMAN CELL; HUMAN TISSUE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; RAT; RNA SPLICING; START CODON; ADULT; ALTERNATIVE RNA SPLICING; ANIMAL; CELL CULTURE; CELL LINE; CHO CELL LINE; COMPARATIVE STUDY; CRICETULUS; EMBRYOLOGY; GENETIC TRANSCRIPTION; GENETICS; HAMSTER; HEART; HEART MUSCLE; METABOLISM; MOLECULAR GENETICS; OPEN READING FRAME;

ADULT; ALTERNATIVE SPLICING; ANIMALS; BASE SEQUENCE; CELL LINE; CELLS, CULTURED; CHO CELLS; CODON, INITIATOR; CRICETINAE; CRICETULUS; HEART; HUMANS; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MYOCARDIUM; NAV1.5 VOLTAGE-GATED SODIUM CHANNEL; OPEN READING FRAMES; PROMOTER REGIONS, GENETIC; PROTEIN ISOFORMS; RATS; RNA SPLICING; SODIUM CHANNELS; TRANSCRIPTION, GENETIC;

EID: 77957738952     PISSN: 10445498     EISSN: None     Source Type: Journal    
DOI: 10.1089/dna.2009.0999     Document Type: Article

References (27)

1. Bierhuizen, M. F. A., Boulaksil, M., Van Stuijvenberg, L., Van der Nagel, R., Jansen, A. T., Mutsaers, N. A. M., Yildirim, C., Van Veen, T. A. B., De Windt, L. J., Vos, M. A., and Van Rijen, H. V. M. (2008). In calcineurin-induced cardiac hypertrophy expression of Nav1.5, Cx40 and Cx43 is reduced by different mechanisms. J Mol Cell Cardiol 45, 373-384.
2. Borlak, J., and Thum, T. (2003). Hallmarks of ion channel gene expression in end-stage heart failure. FASEB J 17, 1592-1608.
3. Camacho, J. A., Hensellek, S., Rougier, J.-S., Blechschmidt, S., Abriel, H., Benndorf, K., and Zimmer, T. (2006). Modulation of Nav1.5 channel function by an alternatively spliced sequence in the DII/DIII linker region. J Biol Chem 281, 9498-9506.
4. Catterall, W. A., Goldin, A. L., and Waxman, S. G. (2005). International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels. Pharmacol Rev 57, 397-409.
5. + channel "neonatal" splice form. J Neurosci Methods 147, 88-98.
6. Davuluri, R. V., Suzuki, Y., Sugano, S., Plass, C., and Huang, T. H.-M. (2008). The functional consequences of alternative promoter use in mammalian genomes. Trends Genet 24, 167-177.
7. + channels: multiplicity of expression, plasticity, functional implications and pathophysiological aspects. Eur Biophys J 33, 180-193.
8. Fraser, S. P., Diss, J. K. J., Chioni, A.-M., Mycielska, M. E., Pan, H., Yamaci, R. F., Pani, F., Siwy, Z., Krasowska, M., Grzywna, Z., Brackenbury, W. J., Theodorou, D., Koyutürk, M., Kaya, H., Battaloglu, E., Tamburo De Bella, M., Slade, M. J., Tolhurst, R., Palmieri, C., Jiang, J., Latchman, D. S., Coombes, R. C., and Djamgoz, M. B. A. (2005). Voltage-gated sodium channel expression and potentiation of human breast cancer metastasis. Clin Cancer Res 11, 5381-5389. (Pubitemid 41060811)
9. Illingworth, R. S., and Bird, A. P. (2009). CpG islands-A rough guide. FEBS Lett 583, 1713-1720.
10. v1.5 are produced by a conserved mechanism in mouse and rat. J Biol Chem 279, 24826-24833.
11. Makielski, J. C., Ye, B., Valdivia, C. R., Pagel, M. D., Pu, J., Tester, D. J., and Ackerman, M. J. (2003). A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels. Circ Res 93, 821-828.
12. Mayor, C., Brudno, M., Schwartz, J. R., Poliakov, A., Rubin, E. M., Frazer, K. A., Pachter, L. S., and Dubchak, I. (2000). VISTA: visualizing global DNA sequence alignments of arbitrary length. Bioinformatics 16, 1046-1047.
13. v1.5 function. J Biol Chem 283, 16537-16544.
14. Meijer, H. A., and Thomas, A. A. M. (2002). Control of eukaryotic protein synthesis by upstream open reading frames in the 5'-untranslated region of an mRNA. Biochem J 367, 1-11.
15. v1.5: an electrophysiological comparison of "neonatal" and "adult" isoforms and critical involvement of a lysine residue. J Cell Physiol 216, 716-726.
16. v1.5/SCN5A. Eur J Neurosci 22, 793-801.
17. Pennacchio, L. A., and Rubin, E. M. (2003). Comparative genomic tools and databases: providing insights into the human genome. J Clin Invest 111, 1099-1106.
18. Pfeifer, I., Anderson, C., Werner, R., and Oltra, E. (2004). Redefining the structure of the mouse connexin43 gene: selective promoter usage and alternative splicing mechanisms yield transcripts with different translational efficiencies. Nucleic Acids Res 32, 4550-4562.
19. Pickering, B. M., and Willis, A. E. (2005). The implications of structured 5' untranslated regions on translation and disease. Semin Cell Dev Biol 16, 39-47.
20. Ramakers, C., Ruijter, J. M., Lekanne Deprez, R. H., and Moorman, A. F. M. (2003). Assumption-free analysis of quantitative real-time polymerase chain reaction (PCR) data. Neurosci Lett 339, 62-66.
21. Remme, C. A., Wilde, A. A. M., and Bezzina, C. R. (2008). Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations. Trends Cardiovasc Med 18, 78-87.
22. Shang, L. L., and Dudley, S. C. (2005). Tandem promoters and developmentally regulated 5' - and 3'-mRNA untranslated regions of the mouse Scn5a cardiac sodium channel. J Biol Chem 280, 933-940.
23. Shang, L. L., Pfahnl, A. E., Sanyal, S., Jiao, Z., Allen, J., Banach, K., Fahrenbach, J., Weiss, D., Taylor, W. R., Zafari, A. M., and Dudley, S. C. (2007). Human heart failure is associated with abnormal C-terminal splicing variants in the cardiac sodium channel. Circ Res 101, 1146-1154.
24. Teunissen, B. E. J., Jansen, A. T., Mutsaers, N. A. M., Vuerhard, M. J., Vos, M. A., and Bierhuizen, M. F. A. (2007). Primary structure, organization, and expression of the rat connexin45 gene. DNA Cell Biol 26, 108-115.
25. Wang, Q., Li, Z., Shen, J., and Keating, M. T. (1996). Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics 34, 9-16.
26. Yang, P., Kupershmidt, S., and Roden, D. M. (2004). Cloning and initial characterization of the human cardiac sodium channel (SCN5A) promoter. Cardiovasc Res 61, 56-65.
27. Yue, L., Melnyk, P., Gaspo, R., Wang, Z., and Nattel, S. (1999). Molecular mechanisms underlying ionic remodeling in a dog model of atrial fibrillation. Circ Res 84, 776-784.