In vitro analysis of ribozyme-mediated knockdown of an adrp associated rhodopsin mutation

Advances in Experimental Medicine and Biology

Volumn 613, Issue , 2008, Pages 97-106

  Chakraborty, Dibyendu ^a   Whalen, Patrick ^b   Lewin, Alfred S ^b   Naash, Muna I ^b  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

HAIRPIN RIBOZYME; HAMMERHEAD RIBOZYME; PROTEIN P23H; RHODOPSIN; RIBOZYME; UNCLASSIFIED DRUG; ADFP PROTEIN, MOUSE; HISTIDINE; MEMBRANE PROTEIN;

AMINO ACID SEQUENCE; AUTOSOMAL DOMINANT DISORDER; CHROMATOPHORE; CONFERENCE PAPER; DRUG MECHANISM; ENZYME ANALYSIS; ENZYME STRUCTURE; GENE EXPRESSION; GENE MUTATION; GENE THERAPY; MOLECULAR CLONING; NONHUMAN; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN CLEAVAGE; RETINITIS PIGMENTOSA; RIBOZYME THERAPY; AMINO ACID SUBSTITUTION; ANIMAL; ARTICLE; CHEMISTRY; CONFORMATION; DISEASE MODEL; ENZYME SPECIFICITY; GENETICS; IN VITRO STUDY; METABOLISM; MOLECULAR GENETICS; MOUSE; NUCLEOTIDE SEQUENCE; TRANSGENIC MOUSE;

AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; DISEASE MODELS, ANIMAL; HISTIDINE; MEMBRANE PROTEINS; MICE; MICE, TRANSGENIC; MOLECULAR SEQUENCE DATA; NUCLEIC ACID CONFORMATION; RHODOPSIN; RNA, CATALYTIC; SUBSTRATE SPECIFICITY;

EID: 38949192624     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-0-387-74904-4_10     Document Type: Conference Paper

References (40)

1. Blake, K. R., Murakami, A., and Miller, P. S., 1985, Inhibition of rabbit globin mRNA translation by sequence-specific oligodeoxyribonucleotides, Biochemistry. 24:6132.
2. Bumcrot, D.,Manoharan, M., Koteliansky, V., and Sah, D.W., 2006, RNAi therapeutics: a potential new class of pharmaceutical drugs, Nat Chem Biol. 2:711
3. Cashman, S. M., Binkley, E. A., and Kumar-Singh, R.,2005, Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference, Gene Ther. 12:1223.
4. Drenser, K. A., Timmers, A. M., Hauswirth, W. W., and Lewin, A. S.,1998, Ribozymetargeted destruction of RNA associated with autosomal-dominant retinitis pigmentosa, Invest Ophthalmol Vis Sci. 39:681.
5. Dryja, T. P., Hahn, L. B., Cowley, G. S., McGee, T. L., and Berson, E. L., 1991, Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa, Proc Natl Acad Sci U S A. 88:9370.
6. Dryja, T. P., McGee, T. L., Hahn, L. B., Cowley, G. S., Olsson, J. E., Reichel, E., Sandberg, M. A., and Berson, E. L., 1990, Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa, N Engl J Med. 323:1302.
7. Esteban, J. A., Walter, N. G., Kotzorek, G., Heckman, J. E., and Burke, J. M., 1998, Structural basis for heterogeneous kinetics: reengineering the hairpin ribozyme, Proc Natl Acad Sci U S A. 95:6091.
8. Frederick, J. M., Krasnoperova, N. V., Hoffmann, K., Church-Kopish, J., Ruther, K., Howes, K., Lem, J., and Baehr, W., 2001, Mutant rhodopsin transgene expression on a null background, Invest Ophthalmolo Vis Sci. 42:826
9. Fritz, J. J., Gorbatyuk, M., Lewin, A. S., and Hauswirth, W. W., 2004, Design and validation of therapeutic hammerhead ribozymes for autosomal dominant diseases, Methods Mol Biol . 252:221.
10. Gorbatyuk, M., Justilien, V., Liu, J., Hauswirth, W. W., and Lewin, A. S., 2007, Preservation of photoreceptor morphology and function in P23H rats using an allele independent ribozyme, Exp Eye Res. 84:44.
11. Gorbatyuk, M. S., Pang, J. J., Thomas, J., Jr., Hauswirth, W. W., and Lewin, A. S., 2005, Knockdown of wild-type mouse rhodopsin using an AAV vectored ribozyme as part of an RNA replacement approach, Mol Vis. 11:648.
12. Goto, Y., Peachey, N. S., Ziroli, N. E., Seiple, W. H., Gryczan, C., Pepperberg, D. R., and Naash, M. I., 1996, Rod phototransduction in transgenic mice expressing a mutant opsin gene, J Opt Soc Am A Opt Image Sci Vis. 13:577.
13. Grasby, J. A., Mersmann, K., Singh, M., and Gait,M. J., 1995, Purine functional groups in essential residues of the hairpin ribozyme required for catalytic cleavage of RNA, Biochemistry. 34:4068.
14. Hampel, A., Tritz, R., Hicks, M., and Cruz, P., 1990, 'Hairpin ' catalytic RNA model: evidence for helices and sequence requirement for substrate RNA, Nucleic Acids Res . 18:299.
15. Hartong, D. T., Berson, E. L., and Dryja, T. P., 2006, Retinitis pigmentosa, Lancet. 368:1795.
16. Inoue, T., Sullivan, F. X., and Cech, T. R., 1985, Intermolecular exon ligation of the rRNA precursor of Tetrahymena: oligonucleotides can function as 5 ' exons, Cell . 43:431
17. Joseph, S., and Burke, J. M., 1993, Optimization of an anti-HIV hairpin ribozyme by in vitro selection, J Biol Chem. 268:24515.
18. LaVail, M. M., Yasumura, D., Matthes, M. T., Drenser, K. A., Flannery, J. G., Lewin, A. S., and Hauswirth,W.W., 2000, Ribozyme rescue of photoreceptor cells in P23H transgenic rats: longterm survival and late-stage therapy, Proc Natl Acad Sci U S A. 97:11488.
19. Lewin, A. S., Drenser, K. A., Hauswirth, W. W., Nishikawa, S., Yasumura, D., Flannery, J. G., and LaVail, M. M., 1998, Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa, Nat Med. 4:967.
20. Liu, J., Timmers, A. M., Lewin, A. S., and Hauswirth, W. W., 2005, Ribozyme knockdown of the gamma-subunit of rod cGMP phosphodiesterase alters the ERG and retinal morphology in wild-type mice, Invest Ophthalmol Vis Sci. 46:3836.
21. McGee Sanftner, L. H., Abel, H., Hauswirth, W. W., and Flannery, J. G., 2001, Glial cell line derived neurotrophic factor delays photoreceptor degeneration in a transgenic rat model of retinitis pigmentosa, Mol Ther. 4:622.
22. Naash, M. I., Hollyfield, J. G., al-Ubaidi, M. R., and Baehr,W., 1993, Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene, Proc Natl Acad Sci U S A. 90:5499.
23. Naash, M. L., Peachey, N. S., Li, Z. Y., Gryczan, C. C., Goto, Y., Blanks, J., Milam, A. H., and Ripps, H., 1996a, Light-induced acceleration of photoreceptor degeneration in transgenic mice expressing mutant rhodopsin, Invest Ophthalmology Visual Sci. 37:775.
24. Naash, M. I., Ripps, H., Li, S., Goto, Y., and Peachey, N. S., 1996b, Polygenic disease and retinitis pigmentosa: albinism exacerbates photoreceptor degeneration induced by the expression of a mutant opsin in transgenic mice, J Neurosci . 16:7853.
25. Naash, M. I., Wu, T. H., Chakraborty, D., Fliesler, S. J., Ding, X. Q., Nour, M., Peachey, N. S., Lem, J., Qtaishat, N., Al-Ubaidi, M. R., and Ripps, H., 2004, Retinal abnormalities associated with the G90D mutation in opsin, The Journal of comparative neurology .478:149.
26. Noorwez, S. M., Malhotra, R., McDowell, J. H., Smith, K. A., Krebs, M. P., and Kaushal, S., 2004, Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H, J Biol Chem . 279:16278.
27. Nour, M., and Naash, M. I., 2003, Mouse models of human retinal disease caused by expression of mutant rhodopsin. A valuable tool for the assessment of novel gene therapies, Adv Exp Med Bio. 533:173.
28. Penn, J. S., Li, S., and Naash, M. I., 2000, Ambient hypoxia reverses retinal vascular attenuation in a transgenic mouse model of autosomal dominant retinitis pigmentosa, Invest Ophthalmol Vis Sci. 41:4007.
29. Petrin, D., Baker, A., Coupland, S. G., Liston, P., Narang, M., Damji, K., Leonard, B., Chiodo, V. A., Timmers, A., Hauswirth,W., Korneluk, R. G., and Tsilfidis, C., 2003, Structural and functional protection of photoreceptors from MNU-induced retinal degeneration by the X-linked inhibitor of apoptosis, Invest Ophthalmol Vis Sci. 44:2757.
30. Qtaishat, N. M., Okajima, T. I., Li, S., Naash, M. I., and Pepperberg, D. R., 1999, Retinoid kinetics in eye tissues of VPP transgenic mice and their normal littermates, Invest Ophthalmol Vis Sci. 40:1040.
31. Shimayama, T., Nishikawa, S., and Taira, K., 1995, Generality of the NUX rule: kinetic analysis of the results of systematic mutations in the trinucleotide at the cleavage site of hammerhead ribozymes, Biochemistry. 34:3649.
32. Sung, C. H., Davenport, C. M., and Nathans, J., 1993, Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain, J Biol Chem. 268:26645.
33. Sung, C. H., Schneider, B. G., Agarwal, N., Papermaster, D. S., and Nathans, J., 1991, Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa, Proc Natl Acad Sci U S A. 88:8840.
34. Tam, B. M., and Moritz, O. L., 2006, Characterization of rhodopsin P23H-induced retinal degeneration in a Xenopus laevis model of retinitis pigmentosa, Invest Ophthalmol Vis Sci. 47:3234.
35. Tang, X. B., Hobom, G., and Luo, D., 1994, Ribozyme mediated destruction of influenza A virus in vitro and in vivo, J Med Virol. 42:385.
36. Wang, D. Y., Chan, W. M., Tam, P. O., Baum, L., Lam, D. S., Chong, K. K., Fan, B. J., and Pang, C. P., 2005, Gene mutations in retinitis pigmentosa and their clinical implications, Clin Chim Acta. 351:16.
37. Wang, M., Lam, T. T., Tso, M. O., and Naash, M. I., 1997, Expression of a mutant opsin gene increases the susceptibility of the retina to light damage, Vis Neurosci. 14:55.
38. Werner,M., and Uhlenbeck, O. C., 1995, The effect of base mismatches in the substrate recognition helices of hammerhead ribozymes on binding and catalysis, Nucleic Acids Res. 23:2092.
39. Wu, T. H., Ting, T. D., Okajima, T. I., Pepperberg, D. R., Ho, Y. K., Ripps, H., and Naash, M. I., 1998, Opsin localization and rhodopsin photochemistry in a transgenic mouse model of retinitis pigmentosa, Neuroscience .87:709.
40. Zamecnik, P. C., and Stephenson, M. L., 1978, Inhibition of Rous sarcoma virus replication and cell transformation by a specific oligodeoxynucleotide, Proc Natl Acad Sci U S A. 75:280.