Human Molecular Genetics, 1999, Vol. 8, No. 10 1893-1900
© 1999 Oxford University Press
Review |
Nonsense-mediated mRNA decayin health and disease
Howard Hughes Medical Institute and Institute for GeneticMedicine, Johns Hopkins University School of Medicine, Baltimore,MD, USA
ABSTRACT
All eukaryotes possess the ability to detect and degradetranscripts harboring premature signals for the termination of translation.Despite the ubiquitous nature of nonsense-mediated mRNA decay (NMD)and its demonstrated role in the modulation of phenotypes resultingfrom selected nonsense alleles, very little is known regarding itsbasic mechanism or the selective pressure for complete evolutionaryconservation of this function. This review will present the currentmodels of NMD that have been generated during the study of model organismsand mammalian cells. The physiological burden of nonsense transcriptsand the emerging view that NMD plays a broad and critical role inthe regulation of gene expression will also be discussed. Such issuesare relevant to the proposal that pharmacological manipulation ofNMD will find therapeutic application.
FOOTNOTES
a To whom correspondenceshould be addressed. Tel: +1 410 614 0701; Fax: +1410 614 2256; Email: hdietz{at}welchlink.welch.jhu.edu
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P. Bjork, G. Bauren, B. Gelius, O. Wrange, and L. Wieslander The Chironomus tentans translation initiation factor eIF4H is present in the nucleus but does not bind to mRNA until the mRNA reaches the cytoplasmic perinuclear region J. Cell Sci., November 15, 2003; 116(22): 4521 - 4532. [Abstract] [Full Text] [PDF]
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M. C. Montefusco, S. Duga, R. Asselta, M. Malcovati, F. Peyvandi, E. Santagostino, P. M. Mannucci, and M. L. Tenchini Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations Blood, November 1, 2003; 102(9): 3210 - 3216. [Abstract] [Full Text] [PDF]
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S. Hofmann, C. Philbrook, K.-D. Gerbitz, and M. F. Bauer Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product Hum. Mol. Genet., August 15, 2003; 12(16): 2003 - 2012. [Abstract] [Full Text] [PDF]
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C.-Y. A. Chen and A.-B. Shyu Rapid Deadenylation Triggered by a Nonsense Codon Precedes Decay of the RNA Body in a Mammalian Cytoplasmic Nonsense-Mediated Decay Pathway Mol. Cell. Biol., July 15, 2003; 23(14): 4805 - 4813. [Abstract] [Full Text] [PDF]
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A S Ramalho, S Beck, D Penque, T Gonska, H H Seydewitz, M Mall, and M D Amaral Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers J. Med. Genet., July 1, 2003; 40(7): e88 - 88. [Full Text] [PDF]
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R. J. Fairclough, L. Dode, J. Vanoevelen, J. P. Andersen, L. Missiaen, L. Raeymaekers, F. Wuytack, and A. Hovnanian Effect of Hailey-Hailey Disease Mutations on the Function of a New Variant of Human Secretory Pathway Ca2+/Mn2+-ATPase (hSPCA1) J. Biol. Chem., June 27, 2003; 278(27): 24721 - 24730. [Abstract] [Full Text] [PDF]
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P Richard, K Gaudon, F Andreux, E Yasaki, C Prioleau, S Bauche, A Barois, C Ioos, M Mayer, M C Routon, et al. Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes J. Med. Genet., June 1, 2003; 40(6): e81 - 81. [Full Text] [PDF]
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P D Turnpenny, N Whittock, J Duncan, S Dunwoodie, K Kusumi, and S Ellard Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis J. Med. Genet., May 1, 2003; 40(5): 333 - 339. [Abstract] [Full Text] [PDF]
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M. Neerman-Arbez, D. Vu, B. Abu-Libdeh, I. Bouchardy, and M. A. Morris Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family Blood, May 1, 2003; 101(9): 3492 - 3494. [Abstract] [Full Text] [PDF]
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D. Ciubotaru, R. Bergman, D. Baty, M. Indelman, E. Pfendner, D. Petronius, H. Moualem, M. Kanaan, D. B. Amitai, W. H. I. McLean, et al. Epidermolysis Bullosa Simplex in Israel: Clinical and Genetic Features Arch Dermatol, April 1, 2003; 139(4): 498 - 505. [Abstract] [Full Text] [PDF]
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A.-M. Pulichino, S. Vallette-Kasic, C. Couture, Y. Gauthier, T. Brue, M. David, G. Malpuech, C. Deal, G. Van Vliet, M. De Vroede, et al. Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency Genes & Dev., March 15, 2003; 17(6): 711 - 716. [Abstract] [Full Text] [PDF]
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E. Shafizadeh, B. H. Paw, H. Foott, E. C. Liao, B. A. Barut, J. J. Cope, L. I. Zon, and S. Lin Characterization of zebrafish merlot/chablis as non-mammalian vertebrate models for severe congenital anemia due to protein 4.1 deficiency Development, March 11, 2003; 129(18): 4359 - 4370. [Abstract] [Full Text] [PDF]
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I. Chantret, J. Dancourt, T. Dupre, C. Delenda, S. Bucher, S. Vuillaumier-Barrot, H. Ogier de Baulny, C. Peletan, O. Danos, N. Seta, et al. A Deficiency in Dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha 3-Glucosyltransferase Defines a New Subtype of Congenital Disorders of Glycosylation J. Biol. Chem., March 7, 2003; 278(11): 9962 - 9971. [Abstract] [Full Text] [PDF]
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C Fan, M A Duhagon, C Oberti, S Chen, Y Hiroi, I Komuro, P I Duhagon, R Canessa, and Q Wang Novel TBX5 mutations and molecular mechanism for Holt-Oram syndrome J. Med. Genet., March 1, 2003; 40(3): e29 - 29. [Full Text] [PDF]
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I Sumitsuji, K Sugano, T Matsui, N Fukayama, K Yamaguchi, T Akasu, S Fujita, Y Moriya, R Yokoyama, S Nomura, et al. Frequent genomic disorganisation of MLH1 in hereditary non-polyposis colorectal cancer (HNPCC) screened by RT-PCR on puromycin treated samples J. Med. Genet., March 1, 2003; 40(3): e30 - 30. [Full Text] [PDF]
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 C. R. Bezzina, M. B. Rook, W.A. Groenewegen, L. J. Herfst, A. C. van der Wal, J. Lam, H. J. Jongsma, A. A.M. Wilde, and M. M.A.M. Mannens Compound Heterozygosity for Mutations (W156X and R225W) in SCN5A Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes in the Conduction System Circ. Res., February 7, 2003; 92(2): 159 - 168. [Abstract] [Full Text] [PDF]
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J. F. Bateman, S. Freddi, G. Nattrass, and R. Savarirayan Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage Hum. Mol. Genet., February 1, 2003; 12(3): 217 - 225. [Abstract] [Full Text] [PDF]
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J. K. Lamba, M. Adachi, D. Sun, J. Tammur, E. G. Schuetz, R. Allikmets, and J. D. Schuetz Nonsense mediated decay downregulates conserved alternatively spliced ABCC4 transcripts bearing nonsense codons Hum. Mol. Genet., January 15, 2003; 12(2): 99 - 109. [Abstract] [Full Text] [PDF]
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