Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference

Gene Therapy

Volumn 12, Issue 15, 2005, Pages 1223-1228

  Cashman, S M ^a   Binkley, E A ^a   Kumar Singh, R ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Retinitis pigmentosa; Rhodopsin; RNA interference

Indexed keywords

DNA; MESSENGER RNA; RHODOPSIN; SHORT HAIRPIN RNA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CELL CULTURE; CODON; DISEASE ASSOCIATION; DNA TEMPLATE; EMBRYO; GENE EXPRESSION REGULATION; GENE MUTATION; GENE SEQUENCE; GENE SILENCING; GENETIC CODE; GENETIC TRANSFECTION; HUMAN; MUTANT; NIGHT BLINDNESS; NONVIRAL GENE THERAPY; PRIORITY JOURNAL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; RNA INTERFERENCE; RNA TRANSLATION; SEQUENCE ANALYSIS; SIMULATION;

BASE SEQUENCE; CELLS, CULTURED; CLONING, MOLECULAR; CODON; GENE EXPRESSION; GENE THERAPY; HUMANS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; RETINA; RETINITIS PIGMENTOSA; RHODOPSIN; RNA INTERFERENCE; RNA, SMALL INTERFERING; TRANSFECTION; TRANSGENES;

EID: 23744485151     PISSN: 09697128     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.gt.3302512     Document Type: Article

References (16)

1. Baylor D. How photons start vision. Proc Natl Acad Sci USA 1996; 93: 560-565.
2. Dryja TP, Berson EL, Rao VR, Oprian DD. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet 1993; 4: 280-283.
3. Souied E et al. Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. Am J Ophthalmol 1996; 121: 19-25.
4. Montgomery RA, Dietz HC. Inhibition of fibrillin 1 expression using U1 shRNA as a vehicle for the presentation of antisense targeting sequence. Hum Mol Genet 1997; 6: 519-525.
5. Millington-Ward S et al. Strategems in vitro for gene therapies directed to dominant mutations. Hum Mol Genet 1997; 6: 1415-1426.
6. Baulcombe D. RNA silencing. Curr Biol 2002; 12: R82-R84.
7. Kumar-Singh R, Binkley E, Cashman S. Mutation independent knock down of rhodopsin by short hairpin RNAs (shRNA) and replacement by a shRNA-resistant rhodopsin transgene. Invest Ophthalmol Vis Sci 2004; 45: 3482.
8. Brummelkamp TR, Bernards R, Agami R. A system for stable expression of short interfering RNAs in mammalian cells. Science 2002; 296: 550-553.
9. Xia H, Mao Q, Paulson HL, Davidson BL. siRNA-mediated gene silencing in vitro and in vivo. Nat Biotechnol 2002; 20: 1006-1010.
10. Fallaux FJ et al. Characterization of 911: a new helper cell line for the titration and propagation of early region 1-deleted adenoviral vectors. Hum Gene Ther 1996; 7: 215-222.
11. Liu X, Garriga P, Khorana HG. Structure and function in rhodopsin: correct folding and misfolding in two point mutants in the intradiscal domain of rhodopsin identified in retinitis pigmentosa. Proc Natl Acad Sci USA 1996; 93: 4554-4559.
12. Lewin AS et al. Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa. Nat Med 1998; 4: 967-971.
13. Illing ME, Rajan RS, Bence NF, Kopito RR. A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system. J Biol Chem 2002; 277: 34150-34160.
14. O'Neill B et al. Ribozyme-based therapeutic approaches for autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2000; 41: 2863-2869.
15. Sullivan JM, Pietras KM, Shin BJ, Misasi JN. Hammerhead ribozymes designed to cleave all human rod opsin mRNAs which cause autosomal dominant retinitis pigmentosa. Mol Vis 2002; 8: 102-113.
16. Ke SH, Madison EL. Rapid and efficient site-directed mutagenesis by single-tube 'megaprimer' PCR method. Nucleic Acids Res 1997; 25: 3371-3372.