Endogenously expressed multimeric self-cleaving hammerhead ribozymes ablate mutant collagen in cellulo

Molecular Therapy

Volumn 12, Issue 1, 2005, Pages 128-136

  Peace, Belinda E ^a   Florer, Jane B ^a   Witte, David ^a   Smicun, Yoel ^b   Toudjarska, Iva ^b   Wu, George ^b   Kilpatrick, Michael W ^b   Tsipouras, Petros ^b   Wenstrup, Richard J ^a  

^a CINCINNATI CHILDREN S HOSPITAL RESEARCH FOUNDATION   (United States)

^b UNIVERSITY OF CONNECTICUT   (United States)

Author keywords

Collagen; Hammerhead; Osteoblast; Osteogenesis imperfecta; Ribozymes

Indexed keywords

COLLAGEN FIBRIL; COLLAGEN TYPE 1; COMPLEMENTARY DNA; HAMMERHEAD RIBOZYME; MUTANT PROTEIN;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; DNA VECTOR; GENE EXPRESSION; GENE MUTATION; GENE TARGETING; GENETIC TRANSCRIPTION; MOLECULAR CLONING; MOUSE; NONHUMAN; NONVIRAL GENE DELIVERY SYSTEM; OSTEOBLAST; PHENOTYPE; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN ISOLATION; PROTEIN LOCALIZATION; PROTEIN TARGETING; RNA ANALYSIS; RNA CLEAVAGE; RNA EXTRACTION; RNA PURIFICATION;

ANIMALS; BASE SEQUENCE; CATTLE; CELL LINE; COLLAGEN TYPE I; MICE; MICROSCOPY, ELECTRON, TRANSMISSION; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOBLASTS; PROMOTER REGIONS (GENETICS); RNA, CATALYTIC;

EID: 20844443874     PISSN: 15250016     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymthe.2005.02.015     Document Type: Article

References (37)

1. D.J. Prockop et al. Mutations in type 1 procollagen that cause osteogenesis imperfecta: Effects of the mutations on the assembly of collagen into fibrils, the basis of phenotypic variations, and potential antisense therapies J. Bone Miner. Res. 8 Suppl. 2 1993 S489-S492
2. P.H. Byers Disorders of collagen biosynthesis and structure In C.R. Scriver A.L. Beaude W.S. Sly D. Valle B. Childs B. Vogelstein (Eds.), The Metabolic and Molecular Basis of Inherited Disease 8th ed. 2000 McGraw-Hill New York 5241-5286
3. R.J. Wenstrup M.C. Willing B.J. Starman and P.H. Byers Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta Am. J. Hum. Genet. 46 1990 975-982
4. A.P. Sarafova et al. Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen Hum. Mutat. 11 1998 395-403
5. U. Vetter et al. Osteogenesis imperfecta: Changes in noncollagenous proteins in bone J. Bone Miner. Res. 6 1991 501-505
6. J. Iwamoto T. Takeda and S. Ichimura Increased bone resorption with decreased activity and increased recruitment of osteoblasts in osteogenesis imperfecta type I J. Bone Miner. Metab. 20 2002 174-179
7. C. Cepollaro et al. Osteogenesis imperfecta: Bone turnover, bone density, and ultrasound parameters Calcif. Tissue Int. 65 1999 129-132
8. R.E. Brenner B. Schiller U. Vetter J. Ittner and W.M. Teller Serum concentrations of procollagen I C-terminal propeptide, osteocalcin and insulin-like growth factor-I in patients with non-lethal osteogenesis imperfecta Acta Paediatr. 82 1993 764-767
9. R.T. Franceschi and B.S. Iyer Relationship between collagen synthesis and expression of the osteoblast phenotype in MC3T3-E1 cells J. Bone Miner. Res. 7 1992 235-246
10. L.D. Quarles D.A. Yohay L.W. Lever R. Caton and R.J. Wenstrup Distinct proliferative and differentiated stages of murine MC3T3-E1 cells in culture: An in vitro model of osteoblast development J. Bone Miner. Res. 7 1992 683-692
11. A.S. Olsen A.E. Geddis and D.J. Prockop High levels of expression of a minigene version of the human pro alpha 1 (I) collagen gene in stably transfected mouse fibroblasts: Effects of deleting putative regulatory sequences in the first intron J. Biol. Chem. 266 1991 1117-1121
12. T.R. Cech Biologic catalysis by RNA Harvey Lect. 82 1986 123-144
13. J. Haseloff and W.L. Gerlach Simple RNA enzymes with new and highly specific endoribonuclease activities Nature 334 1988 585-591
14. S.T. Sigurdsson T. Tuschl and F. Eckstein Probing RNA tertiary structure: Interhelical crosslinking of the hammerhead ribozyme RNA 1 1995 575-583
15. M. Cotten and M.L. Birnstiel Ribozyme mediated destruction of RNA in vivo EMBO J. 8 1989 3861-3866
16. O.C. Uhlenbeck A small catalytic oligoribonucleotide Nature 328 1987 596-600
17. I. Toudjarska M.W. Kilpatrick J. Niu R.J. Wenstrup and P. Tsipouras Delivery of a hammerhead ribozyme specifically downregulates mutant type I collagen mRNA in a murine model of osteogenesis imperfecta Antisense Nucleic Acid Drug Dev. 11 2001 341-346
18. Y. Smicun et al. Enhanced intracellular availability and survival of hammerhead ribozymes increases target ablation in a cellular model of osteogenesis imperfecta Gene Ther. 10 2003 2005-2012
19. E. Bertrand et al. The expression cassette determines the functional activity of ribozymes in mammalian cells by controlling their intracellular localization RNA 3 1997 75-88
20. N.S. Lee E. Bertrand and J. Rossi mRNA localization signals can enhance the intracellular effectiveness of hammerhead ribozymes RNA 5 1999 1200-1209
21. Y. Kato T. Kuwabara M. Warashina H. Toda and K. Taira Relationships between the activities in vitro and in vivo of various kinds of ribozyme and their intracellular localization in mammalian cells J. Biol. Chem. 276 2001 15378-15385
22. T. Kuwabara et al. Significantly higher activity of a cytoplasmic hammerhead ribozyme than a corresponding nuclear counterpart: Engineered tRNAs with an extended 3′ end can be exported efficiently and specifically to the cytoplasm in mammalian cells Nucleic Acids Res. 29 2001 2780-2788
23. A. Stacey et al. Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene Nature 332 1988 131-136
24. J.S. Khillan A.S. Olsen S. Kontusaari B. Sokolov and D.J. Prockop Transgenic mice that express a mini-gene version of the human gene for type I procollagen (COL1A1) develop a phenotype resembling a lethal form of osteogenesis imperfecta J. Biol. Chem. 266 1991 23373-23379
25. R.J. Wenstrup J.L. Fowlkes D.P. Witte and J.B. Florer Discordant expression of osteoblast markers in MC3T3-E1 cells that synthesize a high turnover matrix J. Biol. Chem. 271 1996 10271-10276
26. D. Samarsky G. Ferbeyre and E. Bertrand Expressing active ribozymes in cells Curr. Issues Mol. Biol. 2 2000 87-93
27. C.J. Wilusz and J. Wilusz Bringing the role of mRNA decay in the control of gene expression into focus Trends Genet. 20 2004 491-497
28. G. Grassi A. Forlino and J.C. Marini Cleavage of collagen RNA transcripts by hammerhead ribozymes in vitro is mutation-specific and shows competitive binding effects Nucleic Acids Res. 25 1997 3451-3458
29. S. Millington-Ward et al. Stratagems in vitro for gene therapies directed to dominant mutations Hum. Mol. Genet. 6 1997 1415-1426
30. S. Millington-Ward et al. A mutation-independent therapeutic stratagem for osteogenesis imperfecta Antisense Nucleic Acid Drug Dev. 9 1999 537-542
31. P.A. Dawson and J.C. Marini Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts Nucleic Acids Res. 28 2000 4013-4020
32. S. Millington-Ward et al. Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta Hum. Mol. Genet. 11 2002 2201-2206
33. S. Hagiwara et al. Inhibition of type I procollagen production by tRNAVal CTE-HSP47 ribozyme J. Gene Med. 5 2003 784-794
34. M.T. McManus and P.A. Sharp Gene silencing in mammals by small interfering RNAs Nat. Rev. Genet. 3 2002 737-747
35. Y. Zeng and B.R. Cullen RNA interference in human cells is restricted to the cytoplasm RNA 8 2002 855-860
36. M. Stevenson Therapeutic potential of RNA interference N. Engl. J. Med. 351 2004 1772-1777
37. L.W. Fisher W. Lindner M.F. Young and J.D. Termine Synthetic peptide antisera: Their production and use in the cloning of matrix proteins Connect. Tissue Res 21 1989 43-48; discussion 49-50