ArticleNucleic acids research1994
Mutations to nonsense codons in human genetic disease: implications for gene therapy by nonsense suppressor tRNAs.
Article in Nucleic acids research, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 58 citations in OpenAlex.
- Targeted RNA base editing for therapeutic: mechanisms and advances.Pharmaceutical science advances · 2025Review
- An engineered glutamic acid tRNA for efficient suppression of pathogenic nonsense mutations.Nucleic acids research · 2025Article
- Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Suppressor tRNAs at the interface of genetic code expansion and medicine.Frontiers in genetics · 2024Review
- Seryl-tRNA synthetase promotes translational readthrough by mRNA binding and involvement of the selenocysteine incorporation machinery.Nucleic acids research · 2023Article
- Targeted pseudouridylation: An approach for suppressing nonsense mutations in disease genes.Molecular cell · 2023Article
- Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.Pharmaceuticals (Basel, Switzerland) · 2021Review
- Suppression of Nonsense Mutations by New Emerging Technologies.International journal of molecular sciences · 2020Review
- 2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations.Nature communications · 2020Article
- Engineered transfer RNAs for suppression of premature termination codons.Nature communications · 2019Article
- When Proteins Start to Make Sense: Fine-tuning Aminoglycosides for PTC Suppression Therapy.MedChemComm · 2014Article
- Development of generic immunoassay for the detection of a series of aminoglycosides with 6'-OH group for the treatment of genetic diseases in biological samples.Journal of pharmaceutical and biomedical analysis · 2013Article
- Production of beta-globin and adult hemoglobin following G418 treatment of erythroid precursor cells from homozygous beta(0)39 thalassemia patients.American journal of hematology · 2009Article
- G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.American journal of physiology. Renal physiology · 2008Article
- Complete set of orthogonal 21st aminoacyl-tRNA synthetase-amber, ochre and opal suppressor tRNA pairs: concomitant suppression of three different termination codons in an mRNA in mammalian cells.Nucleic acids research · 2004Article
- Site-specific incorporation of an unnatural amino acid into proteins in mammalian cells.Nucleic acids research · 2002Article
- Import of amber and ochre suppressor tRNAs into mammalian cells: a general approach to site-specific insertion of amino acid analogues into proteins.Proceedings of the National Academy of Sciences of the United States of America · 2001Article
- A kinetic analysis of substrate recognition by uracil-DNA glycosylase from herpes simplex virus type 1.Nucleic acids research · 2001Article
- Genome-wide variation of the somatic mutation frequency in transgenic plants.The EMBO journal · 2000Article
- Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system.RNA (New York, N.Y.) · 2000Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nonsense suppressor tRNAs have been suggested as potential agents for human somatic gene therapy. Recent work from this laboratory has described significant effects of 3' codon context on the efficiency of human nonsense suppressors. A rapid increase in the number of reports of human diseases caused by nonsense codons, prompted us to determine how the spectrum of mutation to either UAG, UAA or UGA codons and their respective 3' contexts, might effect the efficiency of human suppressor tRNAs employed for purposes of gene therapy. This paper presents a survey of 179 events of mutations to nonsense codons which cause human germline or somatic disease. The analysis revealed a ratio of approximately 1:2:3 for mutation to UAA, UAG and UGA respectively. This pattern is similar, but not identical, to that of naturally occurring stop codons. The 3' contexts of new mutations to stop were also analysed. Once again, the pattern was similar to the contexts surrounding natural termination signals. These results imply there will be little difference in the sensitivity of nonsense mutations and natural stop codons to suppression by nonsense suppressor tRNAs. Analysis of the codons altered by nonsense mutations suggests that efforts to design human UAG suppressor tRNAs charged with Trp, Gln, and Glu; UAA suppressors charged with Gln and Glu, and UGA suppressors which insert Arg, would be an essential step in the development of suppressor tRNAs as agents of human somatic gene therapy.
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