2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations
Nonsense mutations can be corrected by several molecules that activate readthrough of premature termination codon. Here, the authors report that 2,6-diaminopurine efficiently corrects UGA nonsense mutations with no significant toxicity.
Carole Trzaska+21 more
doaj +2 more sources
Interaction of nonsense suppressor tRNAs and codon nonsense mutations or termination codons
Codon nonsense mutations include amber, ochre, or opal mutations according to termination codon consisting of three types (TAG, TAA and TGA). Codon nonsense mutations are also divided into natural and artificial mutations. We discussed the interaction of codon nonsense mutations and suppressor tRNAs in vitro and in vivo.
Lu Zixian
openaire +4 more sources
A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies. [PDF]
Nonsense mutations are present in 10% of patients with CF, produce a premature termination codon in CFTR mRNA causing early termination of translation, and lead to lack of CFTR function.
Daniel R McHugh+9 more
doaj +2 more sources
Background Nonsynonymous mutations change the protein sequences and are frequently subjected to natural selection. The same goes for nonsense mutations that introduce pre-mature stop codons into CDSs (coding sequences). Synonymous mutations, however, are
Duan Chu, Lai Wei
doaj +2 more sources
CGG: an unassigned or nonsense codon in Mycoplasma capricolum. [PDF]
CGG is an arginine codon in the universal genetic code. We previously reported that in Mycoplasma capricolum, a relative of Gram-positive eubacteria, codon CGG did not appear in coding frames, including termination sites, and tRNA(ArgCCG) pairing with codon CGG, was not detected. These facts suggest that CGG is a nonsense (unassigned and untranslatable)
Akira Muto+3 more
openaire +4 more sources
Infrequent Translation of a Nonsense Codon Is Sufficient to Decrease mRNA Level [PDF]
In many organisms nonsense mutations decrease the level of mRNA. In the case of mammalian cells, it is still controversial whether translation is required for this nonsense-mediated RNA decrease (NMD). Although previous analyzes have shown that conditions that impede translation termination at nonsense codons also prevent NMD, the residual level of ...
Marc J. Shulman, Alla Buzina
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Nonsense Mutations in Close Proximity to the Initiation Codon Fail to Trigger Full Nonsense-mediated mRNA Decay [PDF]
Nonsense-mediated mRNA decay (NMD) is a surveillance mechanism that degrades mRNAs containing premature translation termination codons. In mammalian cells, a termination codon is ordinarily recognized as "premature" if it is located greater than 50-54 nucleotides 5' to the final exon-exon junction.
Xinjun Ji+9 more
openaire +5 more sources
Engineered tRNAs suppress nonsense mutations in cells and in vivo
Suppressor tRNAs adapted to the amino acid that they carry enable readthrough of premature termination codons introduced by nonsense mutations and show potential for the treatment of genetic diseases such as cystic fibrosis.
S. Albers+26 more
semanticscholar +1 more source
Nonsense-Mediated mRNA Decay, a Finely Regulated Mechanism
Nonsense-mediated mRNA decay (NMD) is both a mechanism for rapidly eliminating mRNAs carrying a premature termination codon and a pathway that regulates many genes.
F. Lejeune
semanticscholar +1 more source
CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway
Approximately 10% of cystic fibrosis patients harbor nonsense mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene which can generate nonsense codons in the CFTR mRNA and subsequently activate the nonsense-mediated decay (NMD)
E. Sanderlin+6 more
semanticscholar +1 more source