Mechanism, factors, and physiological role of nonsense-mediated mRNA decay
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- 作者：Tobias Fatscher ; Volker Boehm ; Niels H. Gehring
- 关键词：NMD ; Quality control ; UPF1 ; Exon junction complex ; Genetic disease
- 刊名：Cellular and Molecular Life Sciences (CMLS)
- 出版年：2015
- 出版时间：December 2015
- 年：2015
- 卷：72
- 期：23
- 页码：4523-4544
- 全文大小：1,233 KB
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Volker Boehm (1)
Niels H. Gehring (1)
1. Institute for Genetics, University of Cologne, Cologne, Germany - 刊物类别：Biomedical and Life Sciences
- 刊物主题：Life Sciences
Cell Biology
Biomedicine
Life Sciences
Biochemistry - 出版者：Birkh盲user Basel
- ISSN：1420-9071
文摘
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.