دورية أكاديمية
How to get away with nonsense: Mechanisms and consequences of escape from nonsense-mediated RNA decay.
العنوان: | How to get away with nonsense: Mechanisms and consequences of escape from nonsense-mediated RNA decay. |
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المؤلفون: | Dyle MC; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, Colorado., Kolakada D; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, Colorado.; Molecular Biology Graduate Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado., Cortazar MA; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, Colorado., Jagannathan S; Department of Biochemistry and Molecular Genetics, University of Colorado Anschutz Medical Campus, Aurora, Colorado.; RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, Colorado. |
المصدر: | Wiley interdisciplinary reviews. RNA [Wiley Interdiscip Rev RNA] 2020 Jan; Vol. 11 (1), pp. e1560. Date of Electronic Publication: 2019 Jul 29. |
نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't; Review |
اللغة: | English |
بيانات الدورية: | Publisher: Wiley Country of Publication: United States NLM ID: 101536955 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-7012 (Electronic) Linking ISSN: 17577004 NLM ISO Abbreviation: Wiley Interdiscip Rev RNA Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: Hoboken, NJ : Wiley, 2010- |
مواضيع طبية MeSH: | Codon, Nonsense/*genetics , Nonsense Mediated mRNA Decay/*genetics, Genetic Variation/genetics ; Humans |
مستخلص: | Nonsense-mediated RNA decay (NMD) is an evolutionarily conserved RNA quality control process that serves both as a mechanism to eliminate aberrant transcripts carrying premature stop codons, and to regulate expression of some normal transcripts. For a quality control process, NMD exhibits surprising variability in its efficiency across transcripts, cells, tissues, and individuals in both physiological and pathological contexts. Whether an aberrant RNA is spared or degraded, and by what mechanism, could determine the phenotypic outcome of a disease-causing mutation. Hence, understanding the variability in NMD is not only important for clinical interpretation of genetic variants but also may provide clues to identify novel therapeutic approaches to counter genetic disorders caused by nonsense mutations. Here, we discuss the current knowledge of NMD variability and the mechanisms that allow certain transcripts to escape NMD despite the presence of NMD-inducing features. This article is categorized under: RNA Turnover and Surveillance > Turnover/Surveillance Mechanisms RNA in Disease and Development > RNA in Disease RNA Turnover and Surveillance > Regulation of RNA Stability. (© 2019 Wiley Periodicals, Inc.) |
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معلومات مُعتمدة: | R35 GM133433 United States GM NIGMS NIH HHS |
فهرسة مساهمة: | Keywords: RNA processing; mRNA surveillance; nonsense-mediated RNA decay; translation |
المشرفين على المادة: | 0 (Codon, Nonsense) |
تواريخ الأحداث: | Date Created: 20190731 Date Completed: 20210101 Latest Revision: 20231130 |
رمز التحديث: | 20231130 |
مُعرف محوري في PubMed: | PMC10685860 |
DOI: | 10.1002/wrna.1560 |
PMID: | 31359616 |
قاعدة البيانات: | MEDLINE |
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