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Nonsense-mediated mRNA decay (NMD) is an mRNA surveillance pathway which ensures the rapid degradation of mRNAs containing premature translation termination codons (PTCs or nonsense codons), thereby preventing the accumulation of truncated and potentially harmful proteins. In this way, the NMD pathway contributes to suppressing or exacerbating the clinical manifestations of specific human genetic disorders. Studies in model organisms have led to the identification of the effectors of the NMD pathway, and illuminated the mechanisms by which premature stops are discriminated from natural stops, so that only the former trigger rapid mRNA degradation. These studies are providing important insights that will aid the development of new treatments for at least some human genetic diseases.

Original publication

DOI

10.1016/j.febslet.2007.05.027

Type

Journal article

Journal

FEBS Lett

Publication Date

19/06/2007

Volume

581

Pages

2845 - 2853

Keywords

3' Untranslated Regions, Animals, Codon, Nonsense, Evolution, Molecular, Genetic Diseases, Inborn, Humans, Invertebrates, Mammals, Models, Biological, Phenotype, RNA Helicases, RNA Stability, RNA, Messenger, Transcription, Genetic