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Literature DB >> 26283621

Mechanism, factors, and physiological role of nonsense-mediated mRNA decay.

Tobias Fatscher¹, Volker Boehm¹, Niels H Gehring².

Abstract

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.

Entities: Chemical

Keywords: Exon junction complex; Genetic disease; NMD; Quality control; UPF1

Mesh：

Substances：

Year: 2015 PMID： 26283621 DOI： 10.1007/s00018-015-2017-9

Source DB: PubMed Journal: Cell Mol Life Sci ISSN： 1420-682X Impact factor: 9.261

220 in total

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Journal: Curr Opin Struct Biol Date: 2010-04-22 Impact factor: 6.809

2. SMG7 is a 14-3-3-like adaptor in the nonsense-mediated mRNA decay pathway.

Authors: Noemi Fukuhara; Judith Ebert; Leonie Unterholzner; Doris Lindner; Elisa Izaurralde; Elena Conti
Journal: Mol Cell Date: 2005-02-18 Impact factor: 17.970

3. The nonsense-mediated decay pathway and mutually exclusive expression of alternatively spliced FGFR2IIIb and -IIIc mRNAs.

Authors: R B Jones; F Wang; Y Luo; C Yu; C Jin; T Suzuki; M Kan; W L McKeehan
Journal: J Biol Chem Date: 2000-10-20 Impact factor: 5.157

4. Cloning of a novel phosphatidylinositol kinase-related kinase: characterization of the human SMG-1 RNA surveillance protein.

Authors: G Denning; L Jamieson; L E Maquat; E A Thompson; A P Fields
Journal: J Biol Chem Date: 2001-04-30 Impact factor: 5.157

5. Y14 and hUpf3b form an NMD-activating complex.

Authors: Niels H Gehring; Gabriele Neu-Yilik; Thomas Schell; Matthias W Hentze; Andreas E Kulozik
Journal: Mol Cell Date: 2003-04 Impact factor: 17.970

Review 6. The multiple lives of NMD factors: balancing roles in gene and genome regulation.

Authors: Olaf Isken; Lynne E Maquat
Journal: Nat Rev Genet Date: 2008-09 Impact factor: 53.242

7. Evidence to implicate translation by ribosomes in the mechanism by which nonsense codons reduce the nuclear level of human triosephosphate isomerase mRNA.

Authors: P Belgrader; J Cheng; L E Maquat
Journal: Proc Natl Acad Sci U S A Date: 1993-01-15 Impact factor: 11.205

8. Nonsense-mediated mRNA decay occurs during eIF4F-dependent translation in human cells.

Authors: Sébastien Durand; Jens Lykke-Andersen
Journal: Nat Struct Mol Biol Date: 2013-05-12 Impact factor: 15.369

9. Drosophila Upf1 and Upf2 loss of function inhibits cell growth and causes animal death in a Upf3-independent manner.

Authors: Paul Avery; Marta Vicente-Crespo; Deepthy Francis; Oxana Nashchekina; Claudio R Alonso; Isabel M Palacios
Journal: RNA Date: 2011-02-11 Impact factor: 4.942

10. Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.

Authors: Lam S Nguyen; Hyung-Goo Kim; Jill A Rosenfeld; Yiping Shen; James F Gusella; Yves Lacassie; Lawrence C Layman; Lisa G Shaffer; Jozef Gécz
Journal: Hum Mol Genet Date: 2013-01-31 Impact factor: 6.150

49 in total

1. Premature termination codon readthrough in human cells occurs in novel cytoplasmic foci and requires UPF proteins.

Authors: Jieshuang Jia; Elisabeth Werkmeister; Sara Gonzalez-Hilarion; Catherine Leroy; Dieter C Gruenert; Frank Lafont; David Tulasne; Fabrice Lejeune
Journal: J Cell Sci Date: 2017-07-25 Impact factor: 5.285

Review 2. Stress and the nonsense-mediated RNA decay pathway.

Authors: Alexandra E Goetz; Miles Wilkinson
Journal: Cell Mol Life Sci Date: 2017-05-13 Impact factor: 9.261

Review 3. RNA Decay Factor UPF1 Promotes Protein Decay: A Hidden Talent.

Authors: Terra-Dawn M Plank; Miles F Wilkinson
Journal: Bioessays Date: 2017-12-13 Impact factor: 4.345

4. Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

Authors: Andrea Delle Vedove; Markus Storbeck; Raoul Heller; Irmgard Hölker; Malavika Hebbar; Anju Shukla; Olafur Magnusson; Sebahattin Cirak; Katta M Girisha; Mary O'Driscoll; Bart Loeys; Brunhilde Wirth
Journal: Am J Hum Genet Date: 2016-10-27 Impact factor: 11.025

5. Regulation of gene expression by translation factor eIF5A: Hypusine-modified eIF5A enhances nonsense-mediated mRNA decay in human cells.

Authors: Mainul Hoque; Ji Yeon Park; Yun-Juan Chang; Augusto D Luchessi; Tavane D Cambiaghi; Raghavendra Shamanna; Hartmut M Hanauske-Abel; Bart Holland; Tsafi Pe'ery; Bin Tian; Michael B Mathews
Journal: Translation (Austin) Date: 2017-08-14