Oligonucleotide-mediated gene editing for neuromuscular disorders

Acta Myologica

Volumn 24, Issue 3, 2005, Pages 194-201

  Bertoni, Carmen ^a,b  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b STANFORD UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Dystrophin; Gene correction; mdx

Indexed keywords

DNA; DYSTROPHIN; GENOMIC DNA; OLIGONUCLEOTIDE; RNA;

ARTICLE; DUCHENNE MUSCULAR DYSTROPHY; GENE MUTATION; HUMAN; IN VITRO STUDY; NEUROMUSCULAR DISEASE; PROTEIN STRUCTURE;

DNA REPAIR; DYSTROPHIN; GENE THERAPY; HUMANS; MUSCULAR DYSTROPHY, DUCHENNE; OLIGONUCLEOTIDES; RNA EDITING;

EID: 33645365216     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (57)

1. Takeshima Y, Nishio H, Sakamoto H, Nakamura H, Matsuo M. Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe. J Clin Invest 1995;95:515-20.
2. Mann CJ, Honeyman K, Cheng AJ, et al. Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proc Natl Acad Sci U S A 2001;98:42-7.
3. Lu QL, Mann CJ, Lou F, et al. Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse. Nat Med 2003;9:1009-14.
4. van Deutekom JC, Bremmer-Bout M, Janson AA, et al. Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Hum Mol Genet 2001;10:1547-54.
5. De Angelis FG, Sthandier O, Berarducci B, et al. Chimeric snRNA molecules carrying antisense sequences against the splice junctions of exon 51 of the dystrophin pre-mRNA induce exon skipping and restoration of a dystrophin synthesis in Delta 48-50 DMD cells. Proc Natl Acad Sci U S A 2002;99:9456-61.
6. Goyenvalle A, Vulin A, Fougerousse F, et al. Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping. Science 2004;306:1796-9.
7. Kren BT, Metz R, Kumar R, Steer CJ. Gene repair using chimeric RNA/DNA oligonucleotides. Semin Liver Dis 1999;19:93-104.
8. Ye S, Cole-Strauss AC, Frank B, Kmiec EB. Targeted gene correction: a new strategy for molecular medicine. Mol Med Today 1998;4:431-7.
9. Richardson PD, Augustin LB, Kren BT, Steer CJ. Gene repair and transposon-mediated gene therapy. Stem Cells 2002;20:105-18.
10. Andersen MS, Sorensen CB, Bolund L, Jensen TG. Mechanisms underlying targeted gene correction using chimeric RNA/DNA and single-stranded DNA oligonucleotides. J Mol Med 2002;80:770-81.
11. Zhu T, Peterson DJ, Tagliani L, et al. Targeted manipulation of maize genes in vivo using chimeric RNA/DNA oligonucleotides. Proc Natl Acad Sci U S A 1999;96:8768-73.
12. Beetham PR, Kipp PB, Sawycky XL, Arntzen CJ, May GD. A tool for functional plant genomics: chimeric RNA/DNA oligonucleotides cause in vivo gene-specific mutations. Proc Natl Acad Sci U S A 1999;96:8774-78.
13. Cole-Strauss A, Yoon K, Xiang Y, et al. Correction of the mutation responsible for sickle cell anemia by an RNA-DNA oligonucleotide. Science 1996;273:1386-9.
14. Kren BT, Cole-Strauss A, Kmiec EB, Steer CJ. Targeted nucleotide exchange in the alkaline phosphatase gene of HuH-7 cells mediated by a chimeric RNA/DNA oligonucleotide. Hepatology 1997;25:1462-8.
15. Kren BT, Bandyopadhyay P, Steer CJ. In vivo site-directed mutagenesis of the factor IX gene by chimeric RNA/DNA oligonucleotides. Nat Med 1998;4:285-90.
16. Alexeev V, Yoon K. Stable and inheritable changes in genotype and phenotype of albino melanocytes induced by an RNA-DNA oligonucleotide. Nat Biotechnol 1998;16:1343-6.
17. Alexeev V, Igoucheva O, Domashenko A, Cotsarelis G, Yoon K. Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide. Nat Biotechnol 2000;18:43-7.
18. Rando TA, Disatnik MH, Zhou LZ. Rescue of dystrophin expression in mdx mouse muscle by RNA/DNA oligonucleotides. Proc Natl Acad Sci U S A 2000;97:5363-8.
19. Bartlett RJ, Stockinger S, Denis MM, et al. In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA/DNA oligonucleotide. Nat Biotechnol 2000;18:615-22.
20. Bertoni C, Rando TA. Dystrophin gene repair in mdx muscle precursor cells in vitro and in vivo mediated by RNA-DNA chimeric oligonucleotides. Hum Gene Ther 2002;13:707-8.
21. Bertoni C, Lau C, Rando TA. Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping. Hum Mol Genet 2003;12:1087-99.
22. Gamper HB, Parekh H, Rice MC, et al. The DNA strand of chimeric RNA/DNA oligonucleotides can direct gene repair/conversion activity in mammalian and plant cell-free extracts. Nucleic Acids Res 2000;28:4332-9.
23. Gamper HB Jr., Cole-Strauss A, Metz R, et al. A plausible mechanism for gene correction by chimeric oligonucleotides. Biochemistry 2000;39:5808-16.
24. Igoucheva O, Alexeev V, Yoon K. Targeted gene correction by small single-stranded oligonucleotides in mammalian cells. Gene Ther 2001;8:391-9.
25. Liu L, Rice MC, Kmiec EB. In vivo gene repair of point and frameshift mutations directed by chimeric RNA/DNA oligonucleotides and modified single-stranded oligonucleotides. Nucleic Acids Res 2001;29:4238-50.
26. Liu L, Rice MC, Drury M, et al. Strand bias in targeted gene repair is influenced by transcriptional activity. Mol Cell Biol 2002;22:3852-63.
27. Liu L, Cheng S, van Brabant AJ, Kmiec EB. Rad51p and Rad54p, but not Rad52p, elevate gene repair in Saccharomyces cerevisiae directed by modified single-stranded oligonucleotide vectors. Nucleic Acids Res 2002;30:2742-50.
28. Igoucheva O, Alexeev V, Yoon K. Nuclear extracts promote gene correction and strand pairing of oligonucleotides to the homologous plasmid. Antisense Nucleic Acid Drug Dev 2002;12:235-46.
29. Thorpe P, Stevenson BJ, Porteous DJ. Optimising gene repair strategies in cell culture. Gene Ther 2002;9:700-2.
30. Olsen PA, McKeen C, Krauss S. Branched oligonucleotides induce in vivo gene conversion of a mutated EGFP reporter. Gene Ther 2003;10:1830-40.
31. Liu L, Parekh-Olmedo H, Kmiec EB. The development and regulation of gene repair. Nat Rev Genet 2003;4:679-89.
32. Dekker M, Brouwers C, te RH. Targeted gene modification in mismatch-repair-deficient embryonic stem cells by single-stranded DNA oligonucleotides. Nucleic Acids Res 2003;31:e27.
33. Igoucheva O, Alexeev V, Pryce M, Yoon K. Transcription affects formation and processing of intermediates in oligonucleotide-mediated gene alteration. Nucleic Acids Res 2003;31:2659-70.
34. Igoucheva O, Alexeev V, Yoon K. Mechanism of gene repair open for discussion. Oligonucleotides 2004;14:311-21.
35. Sharp NJ, Kornegay JN, Van Camp SD, et al. An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics 1992;13:115-21.
36. Bertoni C, Morris GE, Rando TA. Strand bias in oligonucleotide-mediated dystrophin gene editing. Hum Mol Genet 2005;14:221-33.
37. Pirollo KF, Rait A, Sleer LS, Chang EH. Antisense therapeutics: from theory to clinical practice. Pharmacol Ther 2003;99:55-77.
38. Partridge T. Myoblast transplantation. Neuromuscul Disord 2002;12 Suppl 1:S3-6.
39. Sampaolesi M, Torrente Y, Innocenzi A, et al. Cell therapy of alpha-sarcoglycan null dystrophic mice through intraarterial delivery of mesoangioblasts. Science 2003;301:487-92.
40. Ferrari G, Cusella-De Angelis G, Coletta M, et al. Muscle regeneration by bone marrow-derived myogenic progenitors. Science 1998;279:1528-30.
41. Gussoni E, Soneoka Y, Strickland CD, et al. Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature 1999;401:390-4.
42. Collins CA, Olsen I, Zammit PS, et al. Stem cell function, self-renewal, and behavioral heterogeneity of cells from the adult muscle satellite cell niche. Cell 2005;122:289-301.
43. Dezawa M, Ishikawa H, Itokazu Y, et al. Bone marrow stromal cells generate muscle cells and repair muscle degeneration. Science 2005;309:314-7.
44. Montarras D, Morgan J, Collins C, et al. Direct isolation of satellite cells for skeletal muscle regeneration. Science 2005;309:2064-7.
45. Ferrara L, Kmiec EB. Camptothecin enhances the frequency of oligonucleotide-directed gene repair in mammalian cells by inducing DNA damage and activating homologous recombination. Nucleic Acids Res 2004;32:5239-48.
46. Ferrara L, Parekh-Olmedo H, Kmiec EB. Enhanced oligonucleotide-directed gene targeting in mammalian cells following treatment with DNA damaging agents. Exp Cell Res 2004;300:170-9.
47. Brachman EE, Kmiec EB. Gene repair in mammalian cells is stimulated by the elongation of S phase and transient stalling of replication forks. DNA Repair (Amst) 2005;4:445-7.
48. Greelish JP, Su LT, Lankford EB, et al. Stable restoration of the sarcoglycan complex in dystrophic muscle perfused with histamine and a recombinant adeno-associated viral vector. Nat Med 1999;5:439-43.
49. Liang KW, Nishikawa M, Liu F, et al. Restoration of dystrophin expression in mdx mice by intravascular injection of naked DNA containing full-length dystrophin cDNA. Gene Ther 2004;11:901-8.
50. Budker V, Zhang G, Danko I, Williams P, Wolff J. The efficient expression of intravascularly delivered DNA in rat muscle. Gene Ther 1998;5:272-6.
51. Gregorevic P, Blankinship MJ, Allen JM, et al. Systemic delivery of genes to striated muscles using adeno-associated viral vectors. Nat Med 2004;10:828-34.
52. Lu QL, Rabinowitz A, Chen YC, et al. Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles. Proc Natl Acad Sci U S A 2005;102:198-203.
53. Vilquin JT, Kennel PF, Paturneau-Jouas M, et al. Electrotransfer of naked DNA in the skeletal muscles of animal models of muscular dystrophies. Gene Ther 2001;8:1097-107.
54. McMahon JM, Signori E, Wells KE, Fazio VM, Wells DJ. Optimisation of electrotransfer of plasmid into skeletal muscle by pretreatment with hyaluronidase - increased expression with reduced muscle damage. Gene Ther 2001;8:1264-70.
55. Krieg AM, Yi AK, Matson S, et al. CpG motifs in bacterial DNA trigger direct B-cell activation. Nature 1995;374:546-9.
56. Klinman DM. Immunotherapeutic uses of CpG oligodeoxynucleotides. Nat Rev Immunol 2004;4:249-58.
57. Mellor AL, Baban B, Chandler PR, et al. Cutting edge: CpG oligonucleotides induce splenic CD19+ dendritic cells to acquire potent indoleamine 2,3-dioxygenase-dependent T cell regulatory functions via IFN Type 1 signaling. J Immunol 2005;175:5601-5.