메뉴 건너뛰기




Volumn 90, Issue 10, 2008, Pages 1452-1460

The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations

Author keywords

Alternative splicing; Nonsense altered splicing; Nonsense mediated decay; Premature translation termination codon; Respiratory complex I

Indexed keywords

REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

EID: 50949095466     PISSN: 03009084     EISSN: 61831638     Source Type: Journal    
DOI: 10.1016/j.biochi.2008.04.017     Document Type: Article
Times cited : (8)

References (34)
  • 2
    • 0032489021 scopus 로고    scopus 로고
    • Mechanical devices of the spliceosome: motors, clocks, springs, and things
    • Review
    • Staley J.P., and Guthrie C. Mechanical devices of the spliceosome: motors, clocks, springs, and things. Cell 92 (1998) 315-326 Review
    • (1998) Cell , vol.92 , pp. 315-326
    • Staley, J.P.1    Guthrie, C.2
  • 3
    • 0000189848 scopus 로고    scopus 로고
    • Spliceosome assembly
    • Krainer A.R. (Ed), IRL Press, Oxford
    • Reed R., and Palandjian L. Spliceosome assembly. In: Krainer A.R. (Ed). Eukaryotic mRNA Processing (1997), IRL Press, Oxford 103-129
    • (1997) Eukaryotic mRNA Processing , pp. 103-129
    • Reed, R.1    Palandjian, L.2
  • 4
    • 0032006979 scopus 로고    scopus 로고
    • Nonsense surveillance in lymphocytes?
    • Review
    • Li S., and Wilkinson M.F. Nonsense surveillance in lymphocytes?. Immunity 8 (1998) 135-141 Review
    • (1998) Immunity , vol.8 , pp. 135-141
    • Li, S.1    Wilkinson, M.F.2
  • 5
    • 0032837376 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay in health and disease
    • Review
    • Frischmeyer P.A., and Dietz H.C. Nonsense-mediated mRNA decay in health and disease. Hum. Mol. Genet. 8 (1999) 1893-1900 Review
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1893-1900
    • Frischmeyer, P.A.1    Dietz, H.C.2
  • 6
    • 0742323558 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics
    • Maquat L.E. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat. Rev. Mol. Cell Biol. 5 (2004) 89-99
    • (2004) Nat. Rev. Mol. Cell Biol. , vol.5 , pp. 89-99
    • Maquat, L.E.1
  • 7
    • 0037304372 scopus 로고    scopus 로고
    • Nonsense-containing mRNAs that accumulate in the absence of a functional nonsense-mediated mRNA decay pathway are destabilized rapidly upon its restitution
    • Maderazo A.B., Belk J.P., He F., and Jacobson A. Nonsense-containing mRNAs that accumulate in the absence of a functional nonsense-mediated mRNA decay pathway are destabilized rapidly upon its restitution. Mol. Cell. Biol. 23 (2003) 842-851
    • (2003) Mol. Cell. Biol. , vol.23 , pp. 842-851
    • Maderazo, A.B.1    Belk, J.P.2    He, F.3    Jacobson, A.4
  • 8
    • 0035823036 scopus 로고    scopus 로고
    • Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20
    • Ishigaki Y., Li X., Serin G., and Maquat L.E. Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20. Cell 106 (2001) 607-617
    • (2001) Cell , vol.106 , pp. 607-617
    • Ishigaki, Y.1    Li, X.2    Serin, G.3    Maquat, L.E.4
  • 9
    • 0028884942 scopus 로고
    • A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro
    • Carter M.S., Doskow J., Morris P., Li S., Nhim R.P., Sandstedt S., and Wilkinson M.F. A regulatory mechanism that detects premature nonsense codons in T-cell receptor transcripts in vivo is reversed by protein synthesis inhibitors in vitro. J. Biol. Chem. 270 (1995) 28995-29003
    • (1995) J. Biol. Chem. , vol.270 , pp. 28995-29003
    • Carter, M.S.1    Doskow, J.2    Morris, P.3    Li, S.4    Nhim, R.P.5    Sandstedt, S.6    Wilkinson, M.F.7
  • 10
    • 0035005985 scopus 로고    scopus 로고
    • A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition
    • Noensie E.N., and Dietz H.C. A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition. Nat. Biotechnol. 19 (2001) 434-439
    • (2001) Nat. Biotechnol. , vol.19 , pp. 434-439
    • Noensie, E.N.1    Dietz, H.C.2
  • 11
    • 0027388887 scopus 로고
    • Evidence to implicate translation by ribosomes in the mechanism by which nonsense codons reduce the nuclear level of human triosephosphate isomerase mRNA
    • Belgrader P., Cheng J., and Maquat L.E. Evidence to implicate translation by ribosomes in the mechanism by which nonsense codons reduce the nuclear level of human triosephosphate isomerase mRNA. Proc. Natl. Acad. Sci. U. S. A. 90 (1993) 482-486
    • (1993) Proc. Natl. Acad. Sci. U. S. A. , vol.90 , pp. 482-486
    • Belgrader, P.1    Cheng, J.2    Maquat, L.E.3
  • 12
    • 0034672093 scopus 로고    scopus 로고
    • The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions
    • Le Hir H., Izaurralde E., Maquat L.E., and Moore M.J. The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions. EMBO J. 19 (2000) 6860-6869
    • (2000) EMBO J. , vol.19 , pp. 6860-6869
    • Le Hir, H.1    Izaurralde, E.2    Maquat, L.E.3    Moore, M.J.4
  • 13
    • 0034193569 scopus 로고    scopus 로고
    • Pre-mRNA splicing alters mRNP composition: evidence for stable association of proteins at exon-exon junctions
    • Le Hir H., Moore M.J., and Maquat L.E. Pre-mRNA splicing alters mRNP composition: evidence for stable association of proteins at exon-exon junctions. Genes Dev. 14 (2000) 1098-1108
    • (2000) Genes Dev. , vol.14 , pp. 1098-1108
    • Le Hir, H.1    Moore, M.J.2    Maquat, L.E.3
  • 14
    • 0032544062 scopus 로고    scopus 로고
    • A mutated human homologue to yeast Upf1 protein has a dominant-negative effect on the decay of nonsense-containing mRNAs in mammalian cells
    • Sun X., Perlick H.A., Dietz H.C., and Maquat L.E. A mutated human homologue to yeast Upf1 protein has a dominant-negative effect on the decay of nonsense-containing mRNAs in mammalian cells. Proc. Natl. Acad. Sci. U. S. A. 95 (1998) 10009-10014
    • (1998) Proc. Natl. Acad. Sci. U. S. A. , vol.95 , pp. 10009-10014
    • Sun, X.1    Perlick, H.A.2    Dietz, H.C.3    Maquat, L.E.4
  • 15
    • 25844512736 scopus 로고    scopus 로고
    • Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements
    • Gehring N.H., Kunz J.B., Neu-Yilik G., Breit S., Viegas M.H., Hentze M.W., and Kulozik A.E. Exon-junction complex components specify distinct routes of nonsense-mediated mRNA decay with differential cofactor requirements. Mol. Cell 20 (2005) 65-75
    • (2005) Mol. Cell , vol.20 , pp. 65-75
    • Gehring, N.H.1    Kunz, J.B.2    Neu-Yilik, G.3    Breit, S.4    Viegas, M.H.5    Hentze, M.W.6    Kulozik, A.E.7
  • 16
    • 0033525169 scopus 로고    scopus 로고
    • A perfect message: RNA surveillance and nonsense-mediated decay
    • Hentze M.W., and Kulozik A.E. A perfect message: RNA surveillance and nonsense-mediated decay. Cell 96 (1999) 307-310
    • (1999) Cell , vol.96 , pp. 307-310
    • Hentze, M.W.1    Kulozik, A.E.2
  • 17
    • 0037099302 scopus 로고    scopus 로고
    • A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer
    • Caputi Jr. M., Kendzior R.J., and Beemon K.L. A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer. Genes Dev. 16 (2002) 1754-1759
    • (2002) Genes Dev. , vol.16 , pp. 1754-1759
    • Caputi Jr., M.1    Kendzior, R.J.2    Beemon, K.L.3
  • 18
    • 0036207384 scopus 로고    scopus 로고
    • Listening to silence and understanding nonsense: exonic mutations that affect splicing
    • Cartegni L., Chew S.L., and Krainer A.R. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat. Rev. Genet. 3 (2002) 285-298
    • (2002) Nat. Rev. Genet. , vol.3 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.R.3
  • 19
    • 15844406352 scopus 로고    scopus 로고
    • Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis
    • Aoufouchi S., Yelamos J., and Milstein C. Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis. Cell 85 (1996) 415-422
    • (1996) Cell , vol.85 , pp. 415-422
    • Aoufouchi, S.1    Yelamos, J.2    Milstein, C.3
  • 20
    • 0036809882 scopus 로고    scopus 로고
    • Nonsense-associated altered splicing: a frame-dependent response distinct from nonsense-mediated decay
    • Wang J., Chang Y.F., Hamilton J.I., and Wilkinson M.F. Nonsense-associated altered splicing: a frame-dependent response distinct from nonsense-mediated decay. Mol. Cell 10 (2002) 951-957
    • (2002) Mol. Cell , vol.10 , pp. 951-957
    • Wang, J.1    Chang, Y.F.2    Hamilton, J.I.3    Wilkinson, M.F.4
  • 21
    • 7044227587 scopus 로고    scopus 로고
    • Stop codon-mediated suppression of splicing is a novel nuclear scanning mechanism not affected by elements of protein synthesis and NMD
    • Wachtel C., Li B., Sperling J., and Sperling R. Stop codon-mediated suppression of splicing is a novel nuclear scanning mechanism not affected by elements of protein synthesis and NMD. RNA 10 (2004) 1740-1750
    • (2004) RNA , vol.10 , pp. 1740-1750
    • Wachtel, C.1    Li, B.2    Sperling, J.3    Sperling, R.4
  • 23
    • 0242414752 scopus 로고    scopus 로고
    • 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
    • Scacco S., Petruzzella V., Budde S., Vergari R., Tamborra R., Panelli D., van den Heuvel L.P., Smeitink J.A., and Papa S. 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
    • (2003) J. Biol. Chem. , vol.278 , pp. 44161-44167
    • Scacco, S.1    Petruzzella, V.2    Budde, S.3    Vergari, R.4    Tamborra, R.5    Panelli, D.6    van den Heuvel, L.P.7    Smeitink, J.A.8    Papa, S.9
  • 26
    • 0035283150 scopus 로고    scopus 로고
    • 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
    • Petruzzella V., Vergari R., Puzziferri I., Boffoli D., Lamantea E., Zeviani M., and Papa S. 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
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 529-535
    • Petruzzella, V.1    Vergari, R.2    Puzziferri, I.3    Boffoli, D.4    Lamantea, E.5    Zeviani, M.6    Papa, S.7
  • 27
    • 0037029133 scopus 로고    scopus 로고
    • Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene
    • Review
    • Petruzzella V., and Papa S. Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene. Gene 286 (2002) 149-154 Review
    • (2002) Gene , vol.286 , pp. 149-154
    • Petruzzella, V.1    Papa, S.2
  • 28
    • 0037943964 scopus 로고    scopus 로고
    • 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
    • Benit P., Steffann J., Lebon S., Chretien D., Kadhom N., de Lonlay P., Goldenberg A., Dumez Y., Dommergues M., Rustin P., Munnich A., and Rotig A. 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
    • (2003) Hum. Genet. , vol.112 , pp. 563-566
    • Benit, P.1    Steffann, J.2    Lebon, S.3    Chretien, D.4    Kadhom, N.5    de Lonlay, P.6    Goldenberg, A.7    Dumez, Y.8    Dommergues, M.9    Rustin, P.10    Munnich, A.11    Rotig, A.12
  • 29
    • 21244452397 scopus 로고    scopus 로고
    • Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants
    • Petruzzella V., Panelli D., Torraco A., Stella A., and Papa S. Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants. FEBS Lett. 579 (2005) 3770-3776
    • (2005) FEBS Lett. , vol.579 , pp. 3770-3776
    • Petruzzella, V.1    Panelli, D.2    Torraco, A.3    Stella, A.4    Papa, S.5
  • 30
    • 0032104190 scopus 로고    scopus 로고
    • A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance
    • Nagy E., and Maquat L.E. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem. Sci. 23 (1998) 198-199
    • (1998) Trends Biochem. Sci. , vol.23 , pp. 198-199
    • Nagy, E.1    Maquat, L.E.2
  • 32
    • 0028136599 scopus 로고
    • Maintenance of an open reading frame as an additional level of scrutiny during splice site selection
    • Dietz Jr. H.C., and Kendzior R.J. Maintenance of an open reading frame as an additional level of scrutiny during splice site selection. Nat. Genet. 8 (1994) 183-188
    • (1994) Nat. Genet. , vol.8 , pp. 183-188
    • Dietz Jr., H.C.1    Kendzior, R.J.2
  • 33
    • 0031004756 scopus 로고    scopus 로고
    • T cell receptor (TCR) mini-gene mRNA expression regulated by nonsense codons: a nuclear-associated translation-like mechanism
    • Li S., Leonard D., and Wilkinson M.F. T cell receptor (TCR) mini-gene mRNA expression regulated by nonsense codons: a nuclear-associated translation-like mechanism. J. Exp. Med. 185 (1997) 985-992
    • (1997) J. Exp. Med. , vol.185 , pp. 985-992
    • Li, S.1    Leonard, D.2    Wilkinson, M.F.3
  • 34
    • 35648958676 scopus 로고    scopus 로고
    • Alternatively spliced T-cell receptor transcripts are up-regulated in response to disruption of either splicing elements or reading frame
    • Chang Y.F., Chan W.K., Imam J.S., and Wilkinson M.F. Alternatively spliced T-cell receptor transcripts are up-regulated in response to disruption of either splicing elements or reading frame. J. Biol. Chem. 282 (2007) 29738-29747
    • (2007) J. Biol. Chem. , vol.282 , pp. 29738-29747
    • Chang, Y.F.1    Chan, W.K.2    Imam, J.S.3    Wilkinson, M.F.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.