Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment

Gene Therapy

Volumn 11, Issue 7, 2004, Pages 619-627

  Bidou, L ^a   Hatin, I ^a   Perez, N ^b   Allamand, V ^c   Panthier, J J ^d   Rousset, J P ^a  

^a UNIVERSITÉ PARIS SACLAY   (France)

^b CNRS   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d ECOLE NATIONALE VÉTÉRINAIRE D ALFORT   (France)

Author keywords

Dual reporter gene; Gentamicin; Muscular dystrophy; Premature stop codons; Readthrough; Skeletal muscle

Indexed keywords

ADENINE; BETA GALACTOSIDASE; DYSTROPHIN; GENTAMICIN; GUANINE; LUCIFERASE; NUCLEOTIDE; TYROSINE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL ASSAY; CELL CULTURE; CELL STRAIN 3T3; CONTROLLED STUDY; DRUG EFFECT; DRUG EFFICACY; DRUG RESPONSE; ENZYME ACTIVITY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; IN VIVO STUDY; MALE; MEDICAL ASSESSMENT; MOUSE; MUSCULAR DYSTROPHY; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PREDICTION; PRIORITY JOURNAL; REPORTER GENE; SKELETAL MUSCLE; STOP CODON; TREATMENT FAILURE;

MURINAE;

EID: 1842586020     PISSN: 09697128     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.gt.3302211     Document Type: Article

References (40)

1. Martin R et al. Aminoglycoside suppression at UAG, UAA and UGA codons in Escherichia coli and human tissue culture cells. Mol Gen Genet 1989; 217: 411-418.
2. Wimberly BT et al. Structure of the 30S ribosomal subunit. Nature 2000; 407: 327-339.
3. Burke JF, Mogg AE. Suppression of a nonsense mutation in mammalian cells in vivo by the aminoglycoside antibiotics G-418 and paromomycin. Nucleic Acids Res 1985; 13: 6265-6272.
4. Bedwell DM et al. Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line. Nat Med 1997; 3: 1280-1284.
5. Howard M, Frizzell RA, Bedwell DM. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations (see comments). Nat Med 1996; 2: 467-469.
6. Barton-Davis ER et al. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice (see comments). J Clin Invest 1999; 104: 375-381.
7. Arakawa M et al. Negamycin can restore dystrophin in mdx skeletal muscle. Acta Myol 2001: 154-158.
8. Du M et al. Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene. J Mol Med 2002; 80: 595-604.
9. Dunant P, Walter MC, Karpati G, Lochmuller H. Gentamicin fails to increase dystrophin expression in dystrophin-deficient muscle. Muscle Nerve 2003; 27: 624-627.
10. Politano L et al. Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results. Acta Myol 2003; 22: 15-21.
11. Tate WP, Poole ES, Mannering SA. Hidden infidelities of the translational stop signal. Prog Nucleic Acid Res Mol Biol 1996; 52: 293-335.
12. Bonetti B, Fu LW, Moon J, Bedwell DM. The efficiency of translation termination is determined by a synergistic interplay between upstream and downstream sequences in Saccharomyces cerevisiae. J Mol Biol 1995; 251: 334-345.
13. Namy O, Hatin I, Rousset JP. Impact of the six nucleotides downstream of the stop codon on translation termination. EMBO Rep 2001; 2: 787-793.
14. Howard MT et al. Sequence specificity of aminoglycoside-induced stop codon readthrough: Potential implications for treatment of Duchenne muscular dystrophy. Ann Neural 2000; 48: 164-169.
15. Manuvakhova M, Keeling K, Bedwell DM. Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system. RNA 2000; 6: 1044-1055.
16. Stahl G, Bidou L, Rousset JP, Cassan M. Versatile vectors to study recoding: Conservation of rules between yeast and mammalian cells. Nucleic Acids Res 1995; 23: 1557-1560.
17. Kahlmeter G, Dahlager JI. Aminoglycoside toxicity - a review of clinical studies published between 1975 and 1982. J Antimicrob Chemother 1984; 13 (Suppl A): 9-22.
18. Allamand V, Guicheney P. Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). Eur J Hum Genet 2002; 10: 91-94.
19. Helbling-Leclerc A et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995; 11: 216-218.
20. Tome FM et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 1994; 317: 351-357.
21. Roberts RG, Gardner RJ, Bobrow M. Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations. Hum Mutat 1994; 4: 1-11.
22. Culbertson MR. RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer. Trends Genet 1999; 15: 74-80.
23. Ryder-Cook AS et al. Localization of the mdx mutation within the mouse dystrophin gene. EMBO J 1988; 7: 3017-3021.
24. Beermann F et al. Misrouting of tyrosinase with a truncated cytoplasmic tail as a result of the murine platinum (cp) mutation. Exp Eye Res 1995; 61: 599-607.
25. Perez N et al. Tetracycline transcriptional silencer tightly controls transgene expression after in vivo intramuscular electrotransfer: Application to interleukin 10 therapy in experimental arthritis. Hum Gene Ther 2002; 13: 2161-2172.
26. Skuzeski JM, Nichols LM, Gesteland RF, Atkins JF. The signal for a leaky UAG stop codon in several plant viruses includes the two downstream codons. J Mol Biol 1991; 218: 365-373.
27. Berteaux V, Rousset JP, Cassan M. UAG readthrough is not. increased in vivo by Moloney murine leukemia virus infection. Biochimie 1991; 73: 1291-1293.
28. Cassan M, Rousset JP. UAG readthrough in mammalian cells: effect of upstream and downstream stop codon contexts reveal different signals. BMC Mol Biol 2001; 2: 3.
29. Palmer E, Wilhem JM, Sherman F. Phenotypic suppression of nonsense mutants in yeast by aminoglycoside antibiotics. Nature 1979; 277: 148-150.
30. Singh A, Ursic D, Davies J. Phenotypic suppression and misreading Saccharomyces cerevisiae. Nature 1979; 277: 146-148.
31. Li G, Rice CM. The signal for translational readthrough of a UGA codon in Sindbis virus RNA involves a single cytidine residue immediately downstream of the termination codon. J Virol 1993; 67: 5062-5067.
32. Pedersen WT, Curran JF. Effects of the nucleotide 3′ to an amber codon on ribosomal selection rates of suppressor tRNA and release factor-1. J Mol Biol 1991; 219: 231-241.
33. Schroeder R, Waldsich C, Wank H. Modulation of RNA function by aminoglycoside antibiotics. EMBO J 2000; 19: 1-9.
34. Clancy JP et al. Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Am J Respir Crit Care Med 2001; 163: 1683-1692.
35. Wagner KR et al. Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol 2001; 49: 706-711.
36. Wilschanski M et al. A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations. Am J Respir Crit Care Med 2000; 161: 860-865.
37. Namy O, Duchateau-Nguyen G, Rousset JP. Translational readthrough of the PDE2 stop codon modulates cAMP levels in Saccharomyces cerevisiae. Mol Microbiol 2002; 43: 641-652.
38. Grentzmann G et al. A dual-luciferase reporter system for studying recoding signals. RNA 1998; 4: 479-486.
39. Bidou L et al. In vivo HIV-1 frameshiffing efficiency is directly related to the stability of the stem-loop stimulatory signal. RNA 1997; 3: 1153-1158.
40. Mir LM et al. High-efficiency gene transfer into skeletal muscle mediated by electric pulses. Proc Natl Acad Sci USA 1999; 96: 4262-4267.