Nonsense-Associated Altered Splicing
نویسندگان
چکیده
منابع مشابه
Separating Nonsense in Decay and Splicing
Single-molecule studies often require that molecules be well-spaced so that their individual spectral features can be discriminated. Hettich et al. (p. 385; see the cover and the Perspective by Orrit) show that by using a nearby scanning probe tip to supply a local electric field and induce Stark shifts, molecules of terrylene, embedded in a p-terphenyl crystal, that are only 12 nanometers apar...
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Many alternative splicing events create RNAs with premature stop codons, suggesting that alternative splicing coupled with nonsense-mediated decay (AS-NMD) may regulate gene expression post-transcriptionally. We tested this idea in mice by blocking NMD and measuring changes in isoform representation using splicing-sensitive microarrays. We found a striking class of highly conserved stop codon-c...
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BACKGROUND Truncating mutations in the giant sarcomeric gene Titin are the most common type of genetic alteration in dilated cardiomyopathy. Detailed studies have amassed a wealth of information about truncating variant position in cases and controls. Nonetheless, considerable confusion exists as to how to interpret the pathogenicity of these variants, hindering our ability to make useful recom...
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Most human genes exhibit alternative splicing, but not all alternatively spliced transcripts produce functional proteins. Computational and experimental results indicate that a substantial fraction of alternative splicing events in humans result in mRNA isoforms that harbor a premature termination codon (PTC). These transcripts are predicted to be degraded by the nonsense-mediated mRNA decay (N...
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The phenomenon of nonsense-associated altered splicing raises the possibility that the recognition of in-frame nonsense codons is used generally for exon identification during pre-mRNA splicing. However, nonsense codon frequencies in pseudo exons and in regions flanking 5' splice sites are no greater than that expected by chance, arguing against the widespread use of this strategy as a means of...
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ژورنال
عنوان ژورنال: Molecular Cell
سال: 2002
ISSN: 1097-2765
DOI: 10.1016/s1097-2765(02)00635-4