Journal
CELLULAR AND MOLECULAR LIFE SCIENCES
Volume 72, Issue 23, Pages 4523-4544Publisher
SPRINGER BASEL AG
DOI: 10.1007/s00018-015-2017-9
Keywords
NMD; Quality control; UPF1; Exon junction complex; Genetic disease
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Funding
- Fritz Thyssen Stiftung
- Deutsche Forschungsgemeinschaft [SFB635]
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Nonsense-mediated mRNA decay (NMD) is a translation-dependent, multistep process that degrades irregular or faulty messenger RNAs (mRNAs). NMD mainly targets mRNAs with a truncated open reading frame (ORF) due to premature termination codons (PTCs). In addition, NMD also regulates the expression of different types of endogenous mRNA substrates. A multitude of factors are involved in the tight regulation of the NMD mechanism. In this review, we focus on the molecular mechanism of mammalian NMD. Based on the published data, we discuss the involvement of translation termination in NMD initiation. Furthermore, we provide a detailed overview of the core NMD machinery, as well as several peripheral NMD factors, and discuss their function. Finally, we present an overview of diseases associated with NMD factor mutations and summarize the current state of treatment for genetic disorders caused by nonsense mutations.
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