Oligonucleotide-mediated gene therapy for muscular dystrophies

Neuromuscular Disorders

Volumn 12, Issue SUPPL., 2002, Pages

  Rando, Thomas A ^a,b  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VA PALO ALTO HEALTH CARE SYSTEM   (United States)

Author keywords

Chimeric oligonucleotides; Duchenne muscular dystrophy; Gene therapy

Indexed keywords

DNA; DYSTROPHIN; OLIGONUCLEOTIDE; RNA;

CHIMERA; CHIMERAPLASTY; CONFERENCE PAPER; DNA REPAIR; DOG; DUCHENNE MUSCULAR DYSTROPHY; EXPERIMENTATION; GENE CONTROL; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENE THERAPY; GENETIC PROCEDURES; MOUSE STRAIN; MUSCULAR DYSTROPHY; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; RNA PROCESSING; TECHNOLOGY;

ANIMALS; CHIMERA; DNA; DOGS; DYSTROPHIN; GENE THERAPY; HUMANS; INJECTIONS, INTRAMUSCULAR; MICE; MICE, INBRED MDX; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, ANIMAL; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; OLIGONUCLEOTIDES; POINT MUTATION; RNA;

EID: 0036824027     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(02)00083-4     Document Type: Conference Paper

References (61)

1. Rice M.C., Czymmek K., Kmiec E.B. The potential of nucleic acid repair in functional genomics. Nat Biotechnol. 19:2001;321-326.
2. Alexeev V., Yoon K. Gene correction by RNA-DNA oligonucleotides. Pigment Cell Res. 13:2000;72-79.
3. Kren B.T., Metz R., Kumar R., Steer C.J. Gene repair using chimeric RNA/DNA oligonucleotides. Semin Liver Dis. 19:1999;93-104.
4. Casey B.P., Glazer P.M. Gene targeting via triple-helix formation. Prog Nucleic Acid Res Mol Biol. 67:2001;163-192.
5. Colosimo A., Goncz K.K., Novelli G., Dallapiccola B., Gruenert D.C. Targeted correction of a defective selectable marker gene in human epithelial cells by small DNA fragments. Mol Ther. 3:2001;178-185.
6. Igoucheva O., Alexeev V., Yoon K. Targeted gene correction by small single-stranded oligonucleotides in mammalian cells. Gene Ther. 8:2001;391-399.
7. Kole R., Sazani P. Antisense effects in the cell nucleus: modification of splicing. Curr Opin Mol Ther. 3:2001;229-234.
8. Sarver N., Cairns S. Ribozyme trans-splicing and RNA tagging: following the messenger. Nat Med. 2:1996;641-642.
9. Puttaraju M., Jamison S.F., Mansfield S.G., Garcia-Blanco M.A., Mitchell L.G. Spliceosome-mediated RNA trans-splicing as a tool for gene therapy. Nat Biotechnol. 17:1999;246-252.
10. Rando T.A., Disatnik M.H., Zhou L.Z. Rescue of dystrophin expression in mdx mouse muscle by RNA/DNA oligonucleotides. Proc Natl Acad Sci USA. 97:2000;5363-5368.
11. Bertoni C., Rando T.A. Dystrophin gene repair in mdx muscle precursor cells in vitro and in vivo mediated by RNA/DNA chimeric oligonucleotides. Hum Gene Ther. 13:2002;707-718.
12. Bartlett R.J., Stockinger S., Denis M.M., et al. In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA/DNA oligonucleotide. Nat Biotechnol. 18:2000;615-622.
13. Dunckley M.G., Manoharan M., Villiet P., Eperon I.C., Dickson G. Modification of splicing in the dystrophin gene in cultured Mdx muscle cells by antisense oligoribonucleotides. Hum Mol Genet. 7:1998;1083-1090.
14. Wilton S.D., Dye D.E., Laing N.G. Dystrophin gene transcripts skipping the mdx mutation. Muscle Nerve. 20:1997;728-734.
15. van Deutekom J.C., Bremmer-Bout M., Janson A.A., et al. Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Hum Mol Genet. 10:2001;1547-1554.
16. Wilton S.D., Lloyd F., Carville K., et al. Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides. Neuromuscul Disord. 9:1999;330-338.
17. Kapsa R., Quigley A., Lynch G.S., et al. In vivo and in vitro correction of the mdx dystrophin gene nonsense mutation by short-fragment homologous replacement. Hum Gene Ther. 12:2001;629-642.
18. Aartsma-Rus A., Bremmer-Bout M., Janson A.A.M., den Dunnen J.T., van Ommen G.-J.B., van Deutekom J.C.T. Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul Disord. 12:2002;S71-S77.
19. Kapsa R.M.I., Wong S.H.A., Bertoncello I., Quigley A.F., Williams B., Sells K., Marotta R., Kita M., Simmons P., Byrne E., Kornberg A.J. CD45 fraction bone marrow cells as potential delivery vehicles for genetically corrected dystrophin loci. Neuromuscul Disord. 12:2002;S61-S66.
20. Kotani H., Kmiec E.B. A role for RNA synthesis in homologous pairing events. Mol Cell Biol. 14:1994;6097-6106.
21. Kotani H., Germann M.W., Andrus A., Vinayak R., Mullah B., Kmiec E.B. RNA facilitates RecA-mediated DNA pairing and strand transfer between molecules bearing limited regions of homology. Mol Gen Genet. 250:1996;626-634.
22. Cole-Strauss A., Yoon K., Xiang Y., et al. Correction of the mutation responsible for sickle cell anemia by an RNA-DNA oligonucleotide. Science. 273:1996;1386-1389.
23. Ye S., Cole-Strauss A.C., Frank B., Kmiec E.B. Targeted gene correction: a new strategy for molecular medicine. Mol Med Today. 4:1998;431-437.
24. Zhu T., Peterson D.J., Tagliani L., St Clair G., Baszczynski C.L., Bowen B. Targeted manipulation of maize genes in vivo using chimeric RNA/DNA oligonucleotides. Proc Natl Acad Sci USA. 96:1999;8768-8773.
25. Beetham P.R., Kipp P.B., Sawycky X.L., Arntzen C.J., May G.D. A tool for functional plant genomics: chimeric RNA/DNA oligonucleotides cause in vivo gene-specific mutations. Proc Natl Acad Sci USA. 96:1999;8774-8778.
26. Kren B.T., Cole-Strauss A., Kmiec E.B., Steer C.J. Targeted nucleotide exchange in the alkaline phosphatase gene of HuH-7 cells mediated by a chimeric RNA/DNA oligonucleotide. Hepatology. 25:1997;1462-1468.
27. +-enriched cell population using a chimeric RNA/DNA oligonucleotide. J Mol Med. 75:1997;829-835.
28. Kren B.T., Bandyopadhyay P., Steer C.J. In vivo site-directed mutagenesis of the factor IX gene by chimeric RNA/DNA oligonucleotides. Nat Med. 4:1998;285-290.
29. Alexeev V., Yoon K. Stable and inheritable changes in genotype and phenotype of albino melanocytes induced by an RNA-DNA oligonucleotide. Nat Biotechnol. 16:1998;1343-1346.
30. Kren B.T., Parashar B., Bandyopadhyay P., Chowdhury N.R., Chowdhury J.R., Steer C.J. Correction of the UDP-glucuronosyltransferase gene defect in the Gunn rat model of Crigler-Najjar syndrome type I with a chimeric oligonucleotide. Proc Natl Acad Sci USA. 96:1999;10349-10354.
31. 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. 18:2000;43-47.
32. Santana E., Peritz A.E., Iyer S., Uitto J., Yoon K. Different frequency of gene targeting events by the RNA-DNA oligonucleotide among epithelial cells. J Invest Dermatol. 111:1998;1172-1177.
33. Bandyopadhyay P., Ma X., Linehan-Stieers C., Kren B.T., Steer C.J. Nucleotide exchange in genomic DNA of rat hepatocytes using RNA/DNA oligonucleotides. Targeted delivery of liposomes and polyethyleneimine to the asialoglycoprotein receptor. J Biol Chem. 274:1999;10163-10172.
34. Yoon K., Cole-Strauss A., Kmiec E.B. Targeted gene correction of episomal DNA in mammalian cells mediated by a chimeric RNA·DNA oligonucleotide. Proc Natl Acad Sci USA. 93:1996;2071-2076.
35. Strauss M. The site-specific correction of genetic defects. Nat Med. 4:1998;274-275.
36. van der S.G., Schuilenga-Hut P.H., Buys C.H., Scheffer H., Pas H.H., Jonkman M.F. Persistent failures in gene repair. Nat Biotechnol. 19:2001;305-306.
37. Zhang Z., Eriksson M., Falk G., et al. Failure to achieve gene conversion with chimeric circular oligonucleotides: potentially misleading PCR artifacts observed. Antisense Nucleic Acid Drug Dev. 8:1998;531-536.
38. Gamper H.B. Jr, Cole-Strauss A., Metz R., Parekh H., Kumar R., Kmiec E.B. A plausible mechanism for gene correction by chimeric oligonucleotides. Biochemistry. 39:2000;5808-5816.
39. Cole-Strauss A., Gamper H., Holloman W.K., Munoz M., Cheng N., Kmiec E.B. Targeted gene repair directed by the chimeric RNA/DNA oligonucleotide in a mammalian cell-free extract. Nucleic Acids Res. 27:1999;1323-1330.
40. Gamper H.B., Parekh H., Rice M.C., Bruner M., Youkey H., Kmiec E.B. The DNA strand of chimeric RNA/DNA oligonucleotides can direct gene repair/conversion activity in mammalian and plant cell-free extracts. Nucleic Acids Res. 28:2000;4332-4339.
41. Tagalakis A.D., Graham I.R., Riddell D.R., Dickson J.G., Owen J.S. Gene correction of the apolipoprotein (apo) E2 phenotype to wild-type apoE3 by in situ chimeraplasty. J Biol Chem. 276:2001;13226-13230.
42. Capecchi M.R. Altering the genome by homologous recombination. Science. 244:1989;1288-1292.
43. Thomas K.R., Capecchi M.R. Site-directed mutagenesis by gene targeting in mouse embryo-derived stem cells. Cell. 51:1987;503-512.
44. Sicinski P., Geng Y., Ryder-Cook A.S., Barnard E.A., Darlison M.G., Barnard P.J. The molecular basis of muscular dystrophy in the mdx mouse: a point mutation. Science. 244:1989;1578-1580.
45. Amalfitano A., Chamberlain J.S. The mdx-amplification-resistant mutation system assay, a simple and rapid polymerase chain reaction-based detection of the mdx allele. Muscle Nerve. 19:1996;1549-1553.
46. Schultz E., McCormick K.M. Skeletal muscle satellite cells. Rev Physiol Biochem Pharmacol. 123:1994;213-257.
47. Ferrari G., Cusella-De Angelis G., Coletta M., et al. Muscle regeneration by bone marrow-derived myogenic progenitors. Science. 279:1998;1528-1530.
48. Jackson K.A., Mi T., Goodell M.A. Hematopoietic potential of stem cells isolated from murine skeletal muscle. Proc Natl Acad Sci USA. 96:1999;14482-14486.
49. Gussoni E., Soneoka Y., Strickland C.D., et al. Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature. 401:1999;390-394.
50. Ferrari G., Stornaiuolo A., Mavilio F. Failure to correct murine muscular dystrophy. Nature. 411:2001;1014-1015.
51. Sharp N.J., Kornegay J.N., Van Camp S.D., et al. An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. Genomics. 13:1992;115-121.
52. Amalfitano A., Rafael J.A., Chamberlain J.S. Structure and mutation of the dystrophin gene. Brown S.C., Lucy J.A. Dystrophin. 2001;1-26 Cambridge University Press, Cambridge.
53. Monaco A.P., Bertelson C.J., Liechti-Gallati S., Moser H., Kunkel L.M. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 2:1988;90-95.
54. England S.B., Nicholson L.V., Johnson M.A., et al. Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature. 343:1990;180-182.
55. Liu L., Rice M.C., Kmiec E.B. In vivo gene repair of point and frameshift mutations directed by chimeric RNA/DNA oligonucleotides and modified single-stranded oligonucleotides. Nucleic Acids Res. 29:2001;4238-4250.
56. Im W.B., Phelps S.F., Copen E.H., Adams E.G., Slightom J.L., Chamberlain J.S. Differential expression of dystrophin isoforms in strains of mdx mice with different mutations. Hum Mol Genet. 5:1996;1149-1153.
57. Feero W.G., Li S., Rosenblatt J.D., et al. Selection and use of ligands for receptor-mediated gene delivery to myogenic cells. Gene Ther. 4:1997;664-674.
58. Pooga M., Soomets U., Hallbrink M., et al. Cell penetrating PNA constructs regulate galanin receptor levels and modify pain transmission in vivo. Nat Biotechnol. 16:1998;857-861.
59. Villa R., Folini M., Lualdi S., Veronese S., Daidone M.G., Zaffaroni N. Inhibition of telomerase activity by a cell-penetrating peptide nucleic acid construct in human melanoma cells. FEBS Lett. 473:2000;241-248.
60. Schwarze S.R., Ho A., Vocero-Akbani A., Dowdy S.F. In vivo protein transduction: delivery of a biologically active protein into the mouse. Science. 285:1999;1569-1572.
61. Igoucheva O., Peritz A.E., Levy D., Yoon K. A sequence-specific gene correction by an RNA-DNA oligonucleotide in mammalian cells characterized by transfection and nuclear extract using a lacZ shuttle system. Gene Ther. 6:1999;1960-1971.