Overview on applications of antisense-mediated exon skipping

Methods in Molecular Biology

Volumn 867, Issue , 2012, Pages 79-96

  Van Roon Mom, Willeke M C ^a   Aartsma Rus, Annemieke ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Antisense oligonucleotides; Exon skipping; Splicing; Therapeutic development; Therapy

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE;

ANIMAL; ARTICLE; EXON; GENE THERAPY; HUMAN; METHODOLOGY; MUTATION; RNA SPLICING;

ANIMALS; EXONS; GENE THERAPY; HUMANS; MUTATION; OLIGONUCLEOTIDES, ANTISENSE; RNA SPLICING;

EID: 84859849497     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-61779-767-5_6     Document Type: Article

References (45)

1. Dominski Z, Kole R (1993) Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides. Proc Natl Acad Sci USA 90:8673-8677 (Pubitemid 23277732)
2. van Deutekom JC, Janson AA, Ginjaar IB, Frankhuizen WS, Aartsma-Rus A, Bremmer-Bout M et al (2007) Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med 357:2677-2686
3. Svasti S, Suwanmanee T, Fucharoen S, Moulton HM, Nelson MH, Maeda N et al (2009) RNA repair restores hemoglobin expression in IVS2-654 thalassemic mice. Proc Natl Acad Sci USA 106:1205-1210
4. Xie SY, Li W, Ren ZR, Huang SZ, Zeng F, Zeng YT (2011) Correction of beta654-thalassaemia mice using direct intravenous injection of siRNA and antisense RNA vectors. Int J Hematol 93:301-310
5. Davis RL, Homer VM, George PM, Brennan SO (2009) A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment. Hum Mutat 30:221-227
6. Du L, Pollard JM, Gatti RA (2007) Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides. Proc Natl Acad Sci USA 104:6007-6012 (Pubitemid 47175649)
7. Uchikawa H, Fujii K, Kohno Y, Katsumata N, Nagao K, Yamada M et al (2007) U7 snRNAmediated correction of aberrant splicing caused by activation of cryptic splice sites. J Hum Genet 52:891-897 (Pubitemid 350112484)
8. Vega AI, Perez-Cerda C, Desviat LR, Matthijs G, Ugarte M, Perez B (2009) Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. Hum Mutat 30:795-803
9. Friedman KJ, Kole J, Cohn JA, Knowles MR, Silverman LM, Kole R (1999) Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides. J Biol Chem 274:36193-36199
10. David A, Srirangalingam U, Metherell LA, Khoo B, Clark AJ (2010) Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon. J Clin Endocrinol Metab 95(7):3542-3546
11. Kollberg G, Holme E (2009) Antisense oligonucleotide therapeutics for iron-sulphur cluster deficiency myopathy. Neuromuscul Disord 19:833-836
12. Madsen EC, Morcos PA, Mendelsohn BA, Gitlin JD (2008) In vivo correction of a Menkes disease model using antisense oligonucleotides. Proc Natl Acad Sci USA 105:3909-3914 (Pubitemid 351723498)
13. Ugarte M, Aguado C, Desviat LR, Sanchez-Alcudia R, Rincon A, Perez B (2007) Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. Am J Hum Genet 81:1262-1270 (Pubitemid 350211454)
14. Pros E, Fernandez-Rodriguez J, Canet B, Benito L, Sanchez A, Benavides A et al (2009) Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations. Hum Mutat 30:454-462
15. Rodriguez-Pascau L, Coll MJ, Vilageliu L, Grinberg D (2009) Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease. Hum Mutat 30:E993-E1001
16. Vetrini F, Tammaro R, Bondanza S, Surace EM, Auricchio A, De Luca M et al (2006) Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. Hum Mutat 27:420-426 (Pubitemid 43673328)
17. Jiang K, Apostolatos AH, Ghansah T, Watson JE, Vickers T, Cooper DR et al (2008) Identification of a novel antiapoptotic human protein kinase C delta isoform, PKCdeltaVIII in NT2 cells. Biochemistry 47:787-797 (Pubitemid 351195450)
18. Kim DW, Kim JH, Park M, Yeom JH, Go H, Kim S et al (2011) Modulation of biological processes in the nucleus by delivery of DNA oligonucleotides conjugated with gold nanoparticles. Biomaterials 32:2593-2604
19. Mercatante DR, Mohler JL, 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 (Pubitemid 36014369)
20. Renshaw J, Orr RM, Walton MI, Te PR, Williams RD, Wancewicz EV et al (2004) Disruption of WT1 gene expression and exon 5 splicing following cytotoxic drug treatment: antisense down-regulation of exon 5 alters target gene expression and inhibits cell survival. Mol Cancer Ther 3:1467-1484
21. Fong LG, Vickers TA, Farber EA, Choi C, Yun UJ, Hu Y et al (2009) Activating the synthesis of progerin, the mutant prelamin A in Hutchinson-Gilford progeria syndrome, with antisense oligonucleotides. Hum Mol Genet 18:2462-2471
22. Karras JG, Maier MA, Lu T, Watt A, Manoharan M (2001) Peptide nucleic acids are potent modulators of endogenous pre-mRNA splicing of the murine interleukin-5 receptor-alpha chain. Biochemistry 40:7853-7859 (Pubitemid 32622976)
23. Graziewicz MA, Tarrant TK, Buckley B, Roberts J, Fulton L, Hansen H et al (2008) An endogenous TNF-alpha antagonist induced by splice-switching oligonucleotides reduces infl ammation in hepatitis and arthritis mouse models. Mol Ther 16:1316-1322 (Pubitemid 351866064)
24. Vickers TA, Zhang H, Graham MJ, Lemonidis KM, Zhao C, Dean NM (2006) Modification of MyD88 mRNA splicing and inhibition of IL-1beta signaling in cell culture and in mice with a 2 ¢-O-methoxyethyl-modified oligonucleotide. J Immunol 176:3652-3661 (Pubitemid 43364012)
25. Wheeler TM, Lueck JD, Swanson MS, Dirksen RT, Thornton CA (2007) Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. J Clin Invest 117:3952-3957 (Pubitemid 350224104)
26. Wheeler TM, Sobczak K, Lueck JD, Osborne RJ, Lin X, Dirksen RT et al (2009) Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. Science 325:336-339
27. Tyson-Capper AJ, Europe-Finner GN (2006) Novel targeting of cyclooxygenase-2 (COX-2) pre-mRNA using antisense morpholino oligonucleotides directed to the 3 ¢ acceptor and 5 ¢ donor splice sites of exon 4: suppression of COX-2 activity in human amnion-derived WISH and myometrial cells. Mol Pharmacol 69:796-804 (Pubitemid 43363854)
28. Bruno IG, Jin W, Cote GJ (2004) Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements. Hum Mol Genet 13:2409-2420 (Pubitemid 39377845)
29. Passini MA, Bu J, Richards AM, Kinnecom C, Sardi SP, Stanek LM et al (2011) Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Sci Transl Med 3:72ra18
30. Meyer K, Marquis J, Trub J, Nlend NR, Verp S, Ruepp MD et al (2009) Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation. Hum Mol Genet 18:546-555
31. Aartsma-Rus A (2010) Antisense-mediated modulation of splicing: therapeutic implications for Duchenne muscular dystrophy. RNA Biol 7:453-461
32. Goto M, Sawamura D, Nishie W, Sakai K, McMillan JR, Akiyama M et al (2006) Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients. J Invest Dermatol 126:2614-2620 (Pubitemid 44764045)
33. Aartsma-Rus A, Singh KH, Fokkema IF, Ginjaar IB, van Ommen GJ, Dunnen JT et al (2010) Therapeutic exon skipping for dysferlinopathies? Eur J Hum Genet 18(8):889-894
34. Levy N, Wein N, Barthelemy F, Mouly V, Garcia L, Krahn M et al (2010) Therapeutic exon 'switching' for dysferlinopathies? Eur J Hum Genet 18(9):969-970
35. Wein N, Avril A, Bartoli M, Beley C, Chaouch S, Laforet P et al (2010) Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. Hum Mutat 31:136-142
36. Van de Vosse E, Verhar EM, de Pau RA, Platenburg GJ et al (2009) Antisense-mediated exon skipping to correct IL-12Rbeta1 defi-ciency in T cells. Blood 113:4548-4555
37. Khoo B, Roca X, Chew SL, Krainer AR (2007) Antisense oligonucleotide- induced alternative splicing of the APOB mRNA generates a novel isoform of APOB. BMC Mol Biol 8:3 (Pubitemid 46242962)
38. Shiraishi T, Eysturskarth J, Nielsen PE (2010) Modulation of mdm2 pre-mRNA splicing by 9-aminoacridine-PNA (peptide nucleic acid) conjugates targeting intron-exon junctions. BMC Cancer 10:342
39. Sekhon HS, London CA, Sekhon M, Iversen PL, Devi GR (2008) c-MYC antisense phosphosphorodiamidate morpholino oligomer inhibits lung metastasis in a murine tumor model. Lung Cancer 60:347-354
40. Pankratova S, Nielsen BN, Shiraishi T, Nielsen PE (2010) PNA-mediated modulation and redirection of Her-2 pre-mRNA splicing: specific skipping of erbB-2 exon 19 coding for the ATP catalytic domain. Int J Oncol 36:29-38
41. Kang JK, Malerba A, Popplewell L, Foster K, Dickson G (2011) Antisense-induced myostatin exon skipping leads to muscle hypertrophy in mice following octa-guanidine morpholino oligomer treatment. Mol Ther 19:159-164
42. Hua Y, Sahashi K, Hung G, Rigo F, Passini MA, Bennett CF et al (2010) Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev 24:1634-1644
43. Shieh JJ, Liu KT, Huang SW, Chen YJ, Hsieh TY (2009) Modification of alternative splicing of Mcl-1 pre-mRNA using antisense morpholino oligonucleotides induces apoptosis in basal cell carcinoma cells. J Invest Dermatol 129:2497-2506
44. Kalbfuss B, Mabon SA, Misteli T (2001) Correction of alternative splicing of tau in frontotemporal dementia and parkinsonism linked to chromosome 17. J Biol Chem 276: 42986-42993
45. Williams T, Kole R (2006) Analysis of prostate-specific membrane antigen splice variants in LNCap cells. Oligonucleotides 16:186-195