nonsense mutations
Codon usage in vertebrates is associated with a low risk of acquiring nonsense mutations
... However, CpG hypermutability, a tenfold increased mutation risk at the position of CpG dinucleotides, causes genomes to drift from a high GC content to a high AT content [31,32]. Active cellular processes are therefore ...
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Interaction of nonsense suppressor tRNAs and codon nonsense mutations or termination codons
... was a CAT reporter gene bearing an ochre mutation at the 5’ end (CATochre). The second target was the dys- trophin gene in mdx mice. The readthrough efficiencies were about 20% in COS cells and 5.5% in rat hearts. At ...
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Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism
... three nonsense mutations within this growth hormone receptor gene, lying at positions corresponding to the amino terminal extremity and causing a truncation of the molecule, thereby deleting a large portion ...
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Antisense suppression of the nonsense mediated decay factor Upf3b as a potential treatment for diseases caused by nonsense mutations
... by nonsense mutations due to the lack of sufficient efficacy and/or ...a nonsense mutation in the CFTR gene [11], as well as in a mouse model of the lysosomal storage disease mucopoly- saccharidosis ...
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Rescue of nonsense mutations by amlexanox in human cells
... of nonsense mutations is often the absence of mutant gene expression due to the activation of an mRNA surveillance mechanism called nonsense-mediated mRNA decay ...of nonsense-containing mRNAs ...
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The isolation and sequence of missense and nonsense mutations in the cloned bacteriophage P22 tailspike protein gene.
... BARAM 1989), and from the plasmid clone of the tailspike protein gene has been undertaken. This analysis is possible because of the ability to comple- ment absol[r] ...
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EVIDENCE FOR NONSENSE MUTATIONS IN THE AROM GENE CLUSTER OF NEUROSPORA CRASSA
... On the basis of this evidence, these mutants have been interpreted as pleiotropic polar mutants resulting from mutations to nonsense (chain-terminating) codons within the proximal s[r] ...
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Isolation and characterization of nonsense mutations in gene 10 of bacteriophage phi 6.
... We examined the level of protein synthesis of proteins P6 and P3 in 41907 sus600-infected HB lOY cells at 24°C to see whether the amount of P6 and P3 syntthesized was equivalent to the e[r] ...
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NONSENSE MUTATIONS IN THE ADE3 LOCUS OF SACCHAROMYCES CEREVISIAE
... Two of the enzymes, formyltetrahydrofolate synthetase and methenyltetrahydrofolate cyclohydrolase, are present at reduced levels whereas one of two isoenzymes f o r methylenete[r] ...
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Nonsense mutations in essential genes of Saccharomyces cerevisiae.
... Mutants containing an ochre mutation in any essential yeast gene give rise to nonsectoring, white colonies, since cell growth is dependent on the presence of the plas[r] ...
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Synonymous mutations in oncogenesis and apoptosis versus survival unveiled by network modeling
... Synonymous mutations, which do not alter the encoded amino acid, have been routinely assumed to be ‘neutral’ and would have no effect on phenotype or ...synonymous mutations exert biological consequences in ...
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ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
... 4 nonsense mutations, predicted to cause haploinsufficiency by nonsense-mediated RNA decay or to be translated as truncated ...missense mutations, which appear to cluster in the functional ...
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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
... novo nonsense mutations in the identical genes, and that mutations in a related gene, ASXL1, resulted in a similar ...ASXL3 mutations, which were later determined to be de ...
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Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome
... for mutations in the CHD1 gene (GenBank NM ...heterozygous nonsense mutations in CHD1 were identified (Figure ...These mutations are predicted to result in nonsense mediated mRNA decay, ...
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Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders
... In the WWS subgroup of our study all but one family were found to be homozygous or compound heterozy- gous for different nonsense mutations each leading to premature protein truncation. In one family ...
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MAPPING OF THE PROTEINASE B STRUCTURAL GENE PRB1, IN SACCHAROMYCES CEREVISIAE AND IDENTIFICATION OF NONSENSE ALLELES WITHIN THE LOCUS
... Efficiency of suppression: Since prbl-9 was one of only a few prbl mutations to be identified i n our initial screen for nonsense mutations, which utilized diploids[r] ...
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ALS associated missense and nonsense TBK1 mutations can both cause loss of kinase function
... 4 nonsense mutations, predicted to cause haploinsuf fi ciency by nonsense-mediated RNA decay or to be translated as truncated ...missense mutations, which appear to cluster in the functional ...
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Construction and properties of a ribosome-binding site mutation in gene E of phi X174 bacteriophage.
... The efficiency of plaque formation for all strains with gene E nonsense mutations, as well as that for the ribosome-binding site mutants, was higher on bile saltslysozyme plates 100% tha[r] ...
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Tumor genomic alterations in severe-combined immunodeficiency bare-lymphocyte syndrome genes are associated with high mutational burden and disproportional neo-antigen rates
... missense mutations and nonsense mutations were separately calculated and ...BLS mutations before therapy but gained a new BLS type-I mutation during anti-CTLA4 ...
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Hajdu-Cheney syndrome: a review
... of mutations in exon 34, the terminal exon of NOTCH2 . Either nonsense mutations or deletions leading to a shift in the open reading frame and the creation of a termination codon in exon 34 of NOTCH2 ...
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