Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants

FEBS Letters

Volumn 579, Issue 17, 2005, Pages 3770-3776

  Petruzzella, Vittoria ^a   Panelli, Damiano ^a   Torraco, Alessandra ^a   Stella, Alessandro ^a   Papa, Sergio ^a,b  

^a UNIVERSITY OF BARI   (Italy)

^b CNR   (Italy)

Author keywords

Alternative splicing; Leigh syndrome; NDUFS4 gene; Nonsense mediated decay; Respiratory complex I

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ALTERNATIVE RNA SPLICING; ARTICLE; CODON; CONTROLLED STUDY; EXON; GENE; GENE MUTATION; HUMAN; HUMAN CELL; LEIGH DISEASE; NDUFS4 GENE; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN SYNTHESIS INHIBITION; UPREGULATION;

ALTERNATIVE SPLICING; CELLS, CULTURED; CODON, NONSENSE; ELECTRON TRANSPORT COMPLEX I; FIBROBLASTS; HUMANS; LEIGH DISEASE; MUTATION; NADH DEHYDROGENASE; NADH, NADPH OXIDOREDUCTASES; PROTEIN BIOSYNTHESIS; RNA STABILITY; TRANSCRIPTION, GENETIC;

EID: 21244452397     PISSN: 00145793     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.febslet.2005.05.035     Document Type: Article

References (26)

1. L. Cartegni, S.L. Chew, and A.R. Krainer Listening to silence and understanding nonsense: exonic mutations that affect splicing Nat. Rev. Genet. 3 2002 285 298
2. M. Krawczak, J. Reiss, and D.N. Cooper The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences Hum. Genet. 90 1992 41 54
3. L.E. Maquat Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics Nat. Rev. Mol. Cell Biol. 5 2004 89 99
4. J. Wang, Y.F. Chang, J.I. Hamilton, and M.F. Wilkinson Nonsense-associated altered splicing: a frame-dependent response distinct from nonsense-mediated decay Mol. Cell. 4 2002 951 957
5. M.W. Hentze, and A.E. Kulozik A perfect message: RNA surveillance and nonsense-mediated decay Cell 96 1999 307 310
6. B.P. Lewis, R.E. Green, and S.E. Brenner Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans Natl. Acad. Sci. USA 100 2003 189 192
7. J.A. Holbrook, G. Neu-Yilik, M.W. Hentze, and A.E. Kulozik Nonsense-mediated decay approaches the clinic Nat. Genet. 36 2004 801 808
8. S. Papa The NDUFS4 nuclear gene of complex I of mitochondria and the cAMP cascade Biochim. Biophys. Acta 1555 2002 147 153
9. J. Hirst, J. Carroll, I.M. Fearnley, R.J. Shannon, and J.E. Walker The nuclear encoded subunits of complex I from bovine heart mitochondria Biochim. Biophys. Acta 1604 2003 135 150
10. L. van den Heuvel, W. Ruitenbeek, R. Smeets, Z. Gelman-Kohan, O. Elpeleg, J. Loeffen, F. Trijbels, E. Mariman, D. de Bruijn, and J. Smeitink Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit Am. J. Hum. Genet. 62 1998 262 268
11. S.M. Budde, L.P. van den Heuvel, A.J. Janssen, R.J. Smeets, C.A. Buskens, L. DeMeirleir, R. Van Coster, M. Baethmann, T. Voit, J.M. Trijbels, and J.A. Smeitink Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene Biochem. Biophys. Res. Commun. 18 2000 63 68
12. V. Petruzzella, R. Vergari, I. Puzziferri, D. Boffoli, E. Lamantea, M. Zeviani, and S. Papa A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome Hum. Mol. Genet. 10 2001 529 535
13. P. Benit, J. Steffann, S. Lebon, D. Chretien, N. Kadhom, P. de Lonlay, A. Goldenberg, Y. Dumez, M. Dommergues, P. Rustin, A. Munnich, and A. Rotig Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt-1) in the NDUFS4 gene in Leigh syndrome Hum. Genet. 112 2003 563 566
14. S. Scacco, V. Petruzzella, S. Budde, R. Vergari, R. Tamborra, D. Panelli, L.P. van den Heuvel, J.A. Smeitink, and S. Papa Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex J. Biol. Chem. 278 2003 44161 44167
15. A.J. Buckler, D.D. Chang, S.L. Graw, J.D. Brook, D.A. Haber, P.A. Sharp, and D.E. Housman Exon amplification: a strategy to isolate mammalian genes based on RNA splicing Proc. Natl. Acad. Sci. USA 88 1991 4005 4009
16. R.N. Nurtdinov, I.I. Artamonova, A.A. Mironov, and M.S. Gelfand Low conservation of alternative splicing patterns in the human and mouse genomes Hum. Mol. Genet. 12 2003 1313 1320
17. L. Cartegni, J. Wang, Z. Zhu, M.Q. Zhang, and A.R. Krainer ESEfinder: A web resource to identify exonic splicing enhancers Nucl. Acids Res. 31 2003 3568 3571
18. F.J. Iborra, D.A. Jackson, and P.R Cook Coupled transcription and translation within nuclei of mammalian cells Science 293 2001 1139 1142
19. E. Nagy, and L.E. Maquat A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance Trends Biochem. Sci. 6 1998 198 199
20. J. Zhang, and L.E. Maquat Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells EMBO J. 16 1997 826 833
21. S. Danckwardt, G. Neu-Yilik, R. Thermann, U. Frede, M.W. Hentze, and A.E. Kulozik Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay Blood 99 2002 1811 1816
22. L. Perrin-Vidoz, O.M. Sinilnikova, D. Stoppa-Lyonnet, G.M. Lenoir, and S. Mazoyer The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons Hum. Mol. Genet. 11 2002 2805 2814
23. J. Wang, J.P. Gudikote, O.R. Olivas, and M.F. Wilkinson Boundary-independent polar nonsense-mediated decay EMBO Rep. 3 2002 274 279
24. J. Denecke, C. Kranz, D. Kemming, H.G. Koch, and T. Marquardt An activated 5′ cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id) Hum. Mutat. 23 2004 477 486
25. R.S. Maser, R. Zinkel, and J.H. Petrini An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele Nat. Genet. 4 2001 417 421
26. A. Inacio, A.L. Silva, J. Pinto, X. Ji, A. Morgado, F. Almeida, P. Faustino, J. Lavinha, S.A. Liebhaber, and L. Romao Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay J. Biol. Chem. 279 2004 32170 32180