A reporter-based Screen to identify potent 3' trans-splicing molecules for endogenous RNA repair

Human Gene Therapy Methods

Volumn 24, Issue 1, 2013, Pages 19-27

  Murauer, Eva M ^a   Koller, Ulrich ^a   Hainzl, Stefan ^a   Wally, Verena ^a   Bauer, Johann W ^a  

^a PARACELSUS MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ARTICLE; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; KERATINOCYTE; PRIORITY JOURNAL; RNA REPAIR; TRANS SPLICING;

BASE SEQUENCE; BLOTTING, WESTERN; CLONING, MOLECULAR; COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXONS; FLOW CYTOMETRY; GENES, RECESSIVE; GENES, REPORTER; GENETIC VECTORS; GREEN FLUORESCENT PROTEINS; HEK293 CELLS; HUMANS; KERATINOCYTES; MOLECULAR SEQUENCE DATA; MUTATION; RETROVIRIDAE; RNA, MESSENGER; TRANS-SPLICING; TRANSFECTION;

EID: 84878329835     PISSN: 19466536     EISSN: 19466544     Source Type: Journal    
DOI: 10.1089/hgtb.2012.180     Document Type: Article

References (31)

1. Baldeschi, C., Gache, Y., Rattenholl, A., et al. (2003). Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum. Mol. Genet. 12, 1897-1905.
2. Chen, M., Kasahara, N., Keene, D.R., et al. (2002). Restoration of type VII collagen expression and function in dystrophic epidermolysis bullosa. Nat. Genet. 32, 670-675.
3. Dallinger, G., Puttaraju, M., Mitchell, L.G., Y., et al. (2003). Development of spliceosome-mediated RNA trans-splicing (SMaRT) for the correction of inherited skin diseases. Exp. Dermatol. 12, 37-46.
4. Fine, J.D., and Hintner, H. (2008). Life with epidermolysis bullosa. Springer Wien, Vienna.
5. Fine, J.D., Eady, R.A., Bauer, E.A., et al. (2008). The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J. Am. Acad. Dermatol. 58, 931-950.
6. Gache, Y., Baldeschi, C., Del Rio, M., et al. (2004). Construction of skin equivalents for gene therapy of recessive dystrophic epidermolysis bullosa. Hum. Gene Ther. 15, 921-933.
7. Gruber, C., Gratz, I.K., Murauer, E.M., et al. (2011). Spliceosomemediated RNA trans-splicing facilitates targeted delivery of suicide genes to cancer cells. Mol. Cancer Ther. 10, 233-241.
8. Koller, U., Wally, V., Mitchell, L.G., et al. (2011). A novel screening system improves genetic correction by internal exon replacement. Nucleic Acids Res. 39, e108.
9. Liu, X.M., Jiang, Q.S., Mansfield, S.G., et al. (2002). Partial correction of endogenous Delta F508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA transsplicing. Nat. Biotechnol. 20, 47-52.
10. Mecklenbeck, S., Compton, S.H., Mejia, J.E., et al. (2002). A microinjected COL7A1-PAC vector restores synthesis of intact procollagen VII in a dystrophic epidermolysis bullosa keratinocyte cell line. Hum. Gene Ther. 13, 1655-1662.
11. Mitchell, L.G., and McGarrity, G.J. (2005). Gene therapy progress and prospects: reprograming gene expression by transsplicing. Gene Ther. 12, 1477-1485.
12. Murauer, E.M., Gache, Y., Larcher, F., et al. (2010). 3' transsplicing repair of COL7A1 mutations in recessive dystrophic epidermolysis bullosa patients. J. Invest. Dermatol. 130, S75.
13. Murauer, E.M., Gache, Y., Gratz, I.K., et al. (2011). Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa. J. Invest. Dermatol. 131, 74-83.
14. Nolan, G.P., and Shatzman, A.R. (1998). Expression vectors and delivery systems. Curr. Opin. Biotechnol. 9, 447-450.
15. Ortiz-Urda, S., Thyagarajan, B., Keene, D.R., et al. (2002). Stable nonviral genetic correction of inherited human skin disease. Nat. Med. 8, 1166-1170.
16. Pulkkinen, L., and Uitto, J. (1999). Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol. 18, 29-42.
17. Puttaraju, M., Jamison, S.F., Mansfield, S.G., et al. (1999). Spliceosome- mediated RNA trans-splicing as a tool for gene therapy. Nat. Biotechnol. 17, 246-252.
18. Puttaraju, M., DiPasquale, J., Baker, C.C., et al. (2001). Messenger RNA repair and restoration of protein function by spliceosome- mediated RNA trans-splicing. Mol. Ther. 4, 105-114.
19. Rheinwald, J.G., and Green, H. (1975). Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells. Cell. 6, 331-343.
20. Titeux, M., Pendaries, V., Zanta-Boussif, M.A., et al. (2010). SIN retroviral vectors expressing COL7A1 under human promoters for ex vivo gene therapy of recessive dystrophic epidermolysis bullosa. Mol. Ther. 18, 1509-18.
21. Uitto, J., and Pulkkinen, L. (2001). Molecular genetics of heritable blistering disorders. Arch. Dermatol. 137, 1458-1461.
22. Wagner, J.E., Ishida-Yamamoto, A., McGrath, J.A., et al. (2010). Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N. Engl. J. Med. 363, 629-639.
23. Wally, V., Klausegger, A., Koller, U., et al. (2008). 5' transsplicing repair of the PLEC1 gene. J. Invest. Dermatol. 128, 568-574.
24. Wally, V., Brunner, M., Lettner, T., et al. (2010). K14 mRNA reprogramming for dominant epidermolysis bullosa simplex. Hum. Mol. Genet. 19, 4715-4725.
25. Wally, V., Koller, U., and Bauer, J.W. (2011). High-throughput screening for highly functional RNA-trans-splicing molecules: correction of plectin in epidermolysis bullosa simplex. In Human Genetic Diseases. D. Plaseska-Karanfilska, ed. (InTech, New York). Available at www.intechopen.com/ books/ human-genetic-diseases/high-throughput-screening-for-highlyfunctional- rna-trans-splicing-molecules-correction-of-plectin-i
26. Wally, V., Murauer, E.M., and Bauer, J.W. (2012). Spliceosomemediated trans-splicing: The therapeutic cut and paste. J. Invest. Dermatol. 132, 1959-66.
27. Wang, J., Mansfield, S.G., Cote, C.A., et al. (2009). Trans-splicing into highly abundant albumin transcripts for production of therapeutic proteins in vivo. Mol. Ther. 17, 343-351.
28. Wong, T., Gammon, L., Liu, L., et al. (2008). Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J. Invest. Dermatol. 128, 2179-89.
29. Woodley, D.T., Keene, D.R., Atha, T., et al. (2004a). Injection of recombinant human type VII collagen restores collagen function in dystrophic epidermolysis bullosa. Nat. Med. 10, 693-695.
30. Woodley, D.T., Keene, D.R., Atha, T., et al. (2004b). Intradermal injection of lentiviral vectors corrects regenerated human dystrophic epidermolysis bullosa skin tissue in vivo. Mol. Ther. 10, 318-326.
31. Yang, Y.P., and Walsh, C.E. (2005). Spliceosome-mediated RNA trans-splicing. Mol. Ther. 12, 1006-1012.