Therapeutic potential of antisense oligonucleotides as modulators of alternative splicing

Journal of Clinical Investigation

Volumn 112, Issue 4, 2003, Pages 481-486

  Sazani, Peter ^a   Kole, Ryszard ^a,b  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID; ANTISENSE OLIGONUCLEOTIDE; BETA GLOBIN; DYSTROPHIN; FIBRONECTIN; INSULIN RECEPTOR; LIVER TRIACYLGLYCEROL LIPASE; PROSTATE SPECIFIC MEMBRANE ANTIGEN; PROTEIN BCL X; RNA; TAU PROTEIN; TRANSMEMBRANE CONDUCTANCE REGULATOR; 4 AMINOBUTYRIC ACID A RECEPTOR; BCL2L1 PROTEIN, HUMAN; CARBOXYPEPTIDASE; CFTR PROTEIN, HUMAN; GAMMA2 SUBUNIT, GABA A RECEPTOR; GAMMA2 SUBUNIT, GABA-A RECEPTOR; GLOBIN; GLUTAMATE CARBOXYPEPTIDASE II; GLUTAMATE CARBOXYPEPTIDASE II, HUMAN; INTERLEUKIN 5 RECEPTOR; INTERLEUKIN RECEPTOR; LIGAND; MEMBRANE ANTIGEN; MESSENGER RNA; MYC PROTEIN; PROTEIN BCL 2;

ALTERNATIVE RNA SPLICING; BETA THALASSEMIA; CYSTIC FIBROSIS; DISEASE ASSOCIATION; DUCHENNE MUSCULAR DYSTROPHY; GENE THERAPY; HUMAN; KIDNEY POLYCYSTIC DISEASE; PRIORITY JOURNAL; REGULATORY MECHANISM; REVIEW; RNA METABOLISM; RNA REPAIR; BIOLOGICAL MODEL; GENETICS; METABOLISM;

ALTERNATIVE SPLICING; ANTIGENS, SURFACE; BCL-X PROTEIN; CARBOXYPEPTIDASES; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DYSTROPHIN; GLOBINS; GLUTAMATE CARBOXYPEPTIDASE II; HUMANS; LIGANDS; MODELS, BIOLOGICAL; MODELS, GENETIC; OLIGONUCLEOTIDES, ANTISENSE; POLYCYSTIC KIDNEY DISEASES; PROTO-ONCOGENE PROTEINS C-BCL-2; PROTO-ONCOGENE PROTEINS C-MYC; RECEPTOR, INSULIN; RECEPTORS, GABA-A; RECEPTORS, INTERLEUKIN; RECEPTORS, INTERLEUKIN-5; RNA, MESSENGER; TAU PROTEINS;

EID: 0141497030     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI200319547     Document Type: Review

References (39)

1. Crooke, ST. 2001. Antisense drug technology: principles, strategies and applications. Marcel Dekker Inc. New York, New York, USA. 916 pp.
2. Mercatante, D., Sazani, P., and Kole, R. 2001. Modification of alternative splicing pathways as a potential chemotherapy for cancer and other diseases. Curr. Cancer Drug Targets. 1:211-230.
3. Schwartz, E., Benz, Jr., E.J., and Forget, B.G. 2000. Thalassemia syndromes. In Hemalotogy: basic principles and practice. 3rd edition. R. Hoffman, et al., editors. Churchill Livingstone, New York, New York, USA. 485-510.
4. Lacerra, G., et al. 2000. Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients. Proc. Nat. Acad. Sci. U. S. A. 97:9591-9596.
5. Suwanmanee, T., et al. 2002. Restoration of human beta-globin gene expression in murine and human IVS2-654 thalassemic erythroid cells by free uptake of antisense oligonucleotides. Mol. Pharmacol. 62:545-553.
6. Suwanmanee, T., Sierakowska, H., Fucharoen, S., and Kole, R. 2002. Repair of a splicing defect in erythroid cells from patients with β-thalassemia/HbE disorder. Mol. Ther. 6:718-726.
7. Vacek, M.M., et al. 2003. High-level expression of hemoglobin A in human thalassemic erythroid progenitor cells following lentiviral vector delivery of an antisense snRNA. Blood. 101:104-111.
8. Friedman, K.J., et al. 1999. Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides. J. Biol. Chem. 274:36193-36199.
9. Tsui, L.C. 1992. The spectrum of cystic fibrosis mutations. Trends Genet. 8:392-398.
10. Wilton, S.D., et al. 1999. Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides. Neuromuscul. Disord. 9:330-338.
11. Mann, C.J., et al. 2001. Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proc. Natl. Acad. Sci. U. S. A. 98:42-47.
12. Lu, Q.L., et al. 2003. Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse. Nat. Med. doi:10.1038/nm897.
13. van Deutekom, et al. 2001. Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Hum. Mol. Genet. 10:1547-1554.
14. Kalbfuss, B., Mabon, S.A., and Misteli, T. 2001. Correction of alternative splicing of tau in frontotemporal dementia and parkinsonism linked to chromosome 17. J. Biol. Chem. 276:42986-42993.
15. Krajewska, M., et al. 1996. Immunohistochemical analysis of bcl-2, bmx, bcl-X, and mcl-1 expression in prostate cancers. Am. J. Pathol. 148:1567-1576.
16. Taylor, J.K., Zhang, Q.Q., Wyatt, J.R., and Dean, N.M. 1999. Induction of endogenous Bcl-xS through the control of Bcl-x pre-mRNA splicing by antisense oligonucleotides. Nat. Biotechnol. 17:1097-1100.
17. Mercatante, D.R., Bortner, C.D., Cidlowski, J.A., and Kole, R. 2001. Modification of alternative splicing of bcl-x pre-mRNA in prostate and breast cancer cells. Analysis of apoptosis and cell death. J. Biol. Chem. 276:16411-16417.
18. Mercatante, D.R., Mohler, J.L., and Kole, R. 2002. Cellular response to an antisense-mediated shift of Bcl-x pre-mRNA splicing and antineoplastic agents. J. Biol. Chem. 277:49374-49382.
19. Kotsimbos, A.T., and Hamid, Q. 1997. IL-5 and IL-5 receptor in asthma. Mem. Inst. Oswaldo Cruz. 92:75-91.
20. Kartas, J.G., McKay, R.A., Dean, N.M., and Monia, B.P. 2000. Deletion of individual exons and induction of soluble murine interleukin-5 receptor-alpha chain expression through antisense oligonucleotide-mediated redirection of pre-mRNA splicing. Mol. Pharmacol. 58:380-387.
21. Giles, R.V., Spiller, D.G., Clark, R.E., and Tidd, D.M. 1999. Antisense morpholino oligonucleotide analog induces missplicing of C-myc mRNA. Antisense Nucleic Acid Drug Dev. 9:213-220.
22. Sesti, G. 2000 Insulin receptor variant forms and type 2 diabetes mellitus. Pharmacogenomics. 1:49-61.
23. Kosaki, A., Nelson, J., and Webster, N.J. 1998. Identification of intron and exon sequences involved in alternative splicing of insulin receptor pre-mRNA. J. Biol. Chem. 273:10331-10337.
24. Huntsman, M.M., Tran, B.V., Potkin, S.G., Bunney, Jr., W.E., and Jones, E.G. 1998. Altered ratios of alternatively spliced long and short gamma2 subunit mRNAs of the gamma-amino butyrate type A receptor in prefrontal cortex of schizophrenics. Proc. Natl. Acad. Sci. U. S. A. 95:15066-15071.
25. Petrie, J., et al. 2001. Altered gabaa receptor subunit and splice variant expression in rats treated with chronic intermittent ethanol. Alcohol Clin. Exp Res. 25:819-828.
26. Ting, K.M., et al. 2000. Overexpression of the oncofetal Fn variant containing the EDA splice-in segment in the dermal-epidermal junction of psoriatic uninvolved skin. J. Invest. Dermatol. 114:706-711.
27. Grantham, J.J., and Calvet, J.P. 2001. Polycystic kidney disease: in danger of being X-rated? Proc. Natl. Acad. Sci. U. S. A. 98:790-792.
28. Reynolds, D.M., et al. 1999. Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. J. Am. Soc. Nephrol. 10:2342-2351.
29. Brand, K., Dugi, K.A., Brunzell, J.D., Nevin, D.N., and Santamarina-Fojo, S. 1996. A novel A→G mutation in intron I of the hepatic lipase gene leads to alternative splicing resulting in enzyme deficiency. J. Lipid Res. 37:1213-1223.
30. Geary, R.S., et al. 2001. Pharmacokinetic properties of 2′-O-(2-methoxyethyl)-modified oligonucleotide analogs in rats. J. Pharmacol. Exp. Ther. 296:890-897.
31. Sazani, P., et al. 2002. Systemically delivered antisense oligomers upregulate gene expression in murine tissues. Nat. Biotechnol. 20:1228-1233.
32. Kawakami, M., and Nakayama, J. 1997. Enhanced expression of prostate-specific membrane antigen gene in prostate cancer as revealed by in situ hybridization. Cancer Res. 57:2321-2324.
33. Tasch, J., Gong, K., Sadelain, M., and Heston, W.D. 2001. A unique folate hydrolase, prostate-specific membrane antigen (PSMA): a target for immunotherapy? Crit. Rev. Immunol. 21:249-261.
34. Stamey, T.A., et al. 2001. Molecular genetic profiling of Gleason grade 4/5 prostate cancers compared to benign prostatic hyperplasia. J. Urol. 166:2171-2177.
35. Summerton, J. 1999. Morpholino antisense oligomers: the case for an RNase H-independent structural type. Biochim. Biophys. Acta. 1489:141-158.
36. Bennett, C.F., Chiang, M.Y., Chan, H., Shoemaker, J.E., and Mirabelli, C.K. 1992. Cationic lipids enhance cellular uptake and activity of phosphorothioate antisense oligonucleotides. Mol. Pharmacol. 41:1023-1033.
37. Zelphati, O., and Szoka, Jr., F.C. 1996. Intracellular distribution and mechanism of delivery of oligonucleotides mediated by cationic lipids. Pharm. Res. 13:1367-1372.
38. Marcusson, E.G., Bhat, B., Manoharan, M., Bennett, C.F., and Dean, N.M. 1998. Phosphorothioate oligodeoxyribonucleotides dissociate from cationic lipids before entering the nucleus. Nucleic Acids Res. 26:2016-2023.
39. Sazani, P., et al. 2001. Nuclear antisense effects of neutral, anionic and cationic oligonucleotide analogs. Nucleic Acids Res. 29:3965-3974.