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Volumn 18, Issue 10, 1998, Pages 5868-5879

The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNA(Ser(UCN)) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

EID: 0031682732     PISSN: 02707306     EISSN: None     Source Type: Journal    
DOI: 10.1128/MCB.18.10.5868     Document Type: Article
Times cited : (181)

References (49)
  • 5
    • 0032541401 scopus 로고    scopus 로고
    • The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme
    • Bai, Y., and G. Attardi. 1998. The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme. EMBO J. 17:4848-4858.
    • (1998) EMBO J. , vol.17 , pp. 4848-4858
    • Bai, Y.1    Attardi, G.2
  • 6
    • 85038540266 scopus 로고    scopus 로고
    • Unpublished observations
    • 5a.Bai, Y., and G. Attardi. Unpublished observations.
    • Bai, Y.1    Attardi, G.2
  • 7
    • 0022346572 scopus 로고
    • Expression of the cytochrome b-URF6-URF5 region of the mouse mitochondrial genome
    • Bhat, K. S., N. K. Bhat, G. R. Kulkarni, A. Iyengar, and N. G. Avadhani. 1985. Expression of the cytochrome b-URF6-URF5 region of the mouse mitochondrial genome. Biochemistry 24:5818-5825.
    • (1985) Biochemistry , vol.24 , pp. 5818-5825
    • Bhat, K.S.1    Bhat, N.K.2    Kulkarni, G.R.3    Iyengar, A.4    Avadhani, N.G.5
  • 8
    • 0023277545 scopus 로고
    • Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
    • Chomczynski, P., and N. Sacchi. 1987. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162:156-159.
    • (1987) Anal. Biochem. , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 9
    • 0024444899 scopus 로고
    • cDNA of the 24 kDa subunit of the bovine respiratory chain NADH dehydrogenase: High sequence conservation in mammals and tissue-specific and growth-dependent expression
    • Chomyn, A., and S. S.-A. T. Lai. 1989. cDNA of the 24 kDa subunit of the bovine respiratory chain NADH dehydrogenase: high sequence conservation in mammals and tissue-specific and growth-dependent expression. Curr. Genet. 16:117-125.
    • (1989) Curr. Genet. , vol.16 , pp. 117-125
    • Chomyn, A.1    Lai, S.S.-A.T.2
  • 10
    • 0029059067 scopus 로고
    • MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA and premature translation termination
    • Enriquez, J. A., A. Chomyn, and G. Attardi. 1995. MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA and premature translation termination. Nat. Genet. 10:47-55.
    • (1995) Nat. Genet. , vol.10 , pp. 47-55
    • Enriquez, J.A.1    Chomyn, A.2    Attardi, G.3
  • 13
    • 0021331794 scopus 로고
    • Intercalating drugs and low temperatures inhibit synthesis and processing of ribosomal RNA in isolated human mitochondria
    • Gaines, G., and G. Attardi. 1984. Intercalating drugs and low temperatures inhibit synthesis and processing of ribosomal RNA in isolated human mitochondria. J. Mol. Biol. 172:451-466.
    • (1984) J. Mol. Biol. , vol.172 , pp. 451-466
    • Gaines, G.1    Attardi, G.2
  • 14
    • 0019495572 scopus 로고
    • Synthesis and turnover of mitochondrial ribonucleic acid in HeLa cells: The mature ribosomal and messenger ribonucleic acid species are metabolically unstable
    • Gelfand, R., and G. Attardi. 1981. Synthesis and turnover of mitochondrial ribonucleic acid in HeLa cells: the mature ribosomal and messenger ribonucleic acid species are metabolically unstable. Mol. Cell. Biol. 1:497-511.
    • (1981) Mol. Cell. Biol. , vol.1 , pp. 497-511
    • Gelfand, R.1    Attardi, G.2
  • 15
    • 0030016359 scopus 로고    scopus 로고
    • Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation
    • Guan, M. X., N. Fischel-Ghodsian, and G. Attardi. 1996. Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 6:963-971.
    • (1996) Hum. Mol. Genet. , vol.6 , pp. 963-971
    • Guan, M.X.1    Fischel-Ghodsian, N.2    Attardi, G.3
  • 16
    • 0025836655 scopus 로고
    • Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction
    • Hayashi, J.-L., S. Ohta, A. Kikuchi, M. Takemitsu, Y.-I. Goto, and I. Nonaka. 1991. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc. Natl. Acad. Sci. USA 88:10614-10618.
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 10614-10618
    • Hayashi, J.-L.1    Ohta, S.2    Kikuchi, A.3    Takemitsu, M.4    Goto, Y.-I.5    Nonaka, I.6
  • 17
    • 0032052242 scopus 로고    scopus 로고
    • The presence of modified nucleotides is required for cloverlead folding of a human mitochondrial tRNA
    • Helm, M., H. Brulé, F. Degoul, C. Cepanec, J.-P. Leroux, R. Giegé, and C. Florentz. 1998. The presence of modified nucleotides is required for cloverlead folding of a human mitochondrial tRNA. Nucleic Acids Res. 26:1636-1643.
    • (1998) Nucleic Acids Res. , vol.26 , pp. 1636-1643
    • Helm, M.1    Brulé, H.2    Degoul, F.3    Cepanec, C.4    Leroux, J.-P.5    Giegé, R.6    Florentz, C.7
  • 18
    • 15844414869 scopus 로고    scopus 로고
    • Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Lebers hereditary optic neuropathy
    • Hofhaus, G., D. R. Johns, O. Hurko, G. Attardi, and A. Chomyn. 1996. Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Lebers hereditary optic neuropathy. J. Biol. Chem. 271:13155-13161.
    • (1996) J. Biol. Chem. , vol.271 , pp. 13155-13161
    • Hofhaus, G.1    Johns, D.R.2    Hurko, O.3    Attardi, G.4    Chomyn, A.5
  • 19
    • 0029935370 scopus 로고    scopus 로고
    • Use of polarography to detect respiration defects in cell cultures
    • Hofhaus, G., R. M. Shakeley, and G. Attardi. 1996. Use of polarography to detect respiration defects in cell cultures. Methods Enzymol. 264:476-483.
    • (1996) Methods Enzymol. , vol.264 , pp. 476-483
    • Hofhaus, G.1    Shakeley, R.M.2    Attardi, G.3
  • 21
    • 0025897119 scopus 로고
    • Leber hereditary optic neuropathy: Involvement of the mitochondrial ND1 gene and evidence for an intragenic suppression mutation
    • Howell, N., I. Kubacka, M. Xu, and D. A. McCullough. 1991. Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppression mutation. Am. J. Hum. Genet. 48:935-942.
    • (1991) Am. J. Hum. Genet. , vol.48 , pp. 935-942
    • Howell, N.1    Kubacka, I.2    Xu, M.3    McCullough, D.A.4
  • 23
    • 0026036025 scopus 로고
    • Alternative, simultaneous Complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy
    • Johns, D. R., and J. Berman. 1991. Alternative, simultaneous Complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 174:1324-1330.
    • (1991) Biochem. Biophys. Res. Commun. , vol.174 , pp. 1324-1330
    • Johns, D.R.1    Berman, J.2
  • 24
    • 0026337654 scopus 로고
    • Cytochrome b mutations in Leber hereditary optic neuropathy
    • Johns, D. R., and M. J. Neufeld. 1991. Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 181:1358-1364.
    • (1991) Biochem. Biophys. Res. Commun. , vol.181 , pp. 1358-1364
    • Johns, D.R.1    Neufeld, M.J.2
  • 25
    • 0026757115 scopus 로고
    • An ND6 mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Johns, D. R., M. J. Neufeld, and R. D. Park. 1992. An ND6 mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 187:1551-1557.
    • (1992) Biochem. Biophys. Res. Commun. , vol.187 , pp. 1551-1557
    • Johns, D.R.1    Neufeld, M.J.2    Park, R.D.3
  • 26
    • 0024448458 scopus 로고
    • Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
    • King, M. P., and G. Attardi. 1989. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 246:500-503.
    • (1989) Science , vol.246 , pp. 500-503
    • King, M.P.1    Attardi, G.2
  • 27
    • 0027300490 scopus 로고
    • Post-transcriptional regulation of the steady-state levels of mitochondrial tRNAs in HeLa cells
    • King, M. P., and G. Attardi. 1993. Post-transcriptional regulation of the steady-state levels of mitochondrial tRNAs in HeLa cells. J. Biol. Chem. 268:10228-10237.
    • (1993) J. Biol. Chem. , vol.268 , pp. 10228-10237
    • King, M.P.1    Attardi, G.2
  • 28
    • 0040583581 scopus 로고
    • Identification of initiation sites for heavy-strand and light-strand transcription in human mitochondrial DNA
    • Montoya, J., T. Christianson, D. Levens, M. Rabinowitz, and G. Attardi. 1982. Identification of initiation sites for heavy-strand and light-strand transcription in human mitochondrial DNA. Proc. Natl. Acad. Sci. USA 79:7195-7199.
    • (1982) Proc. Natl. Acad. Sci. USA , vol.79 , pp. 7195-7199
    • Montoya, J.1    Christianson, T.2    Levens, D.3    Rabinowitz, M.4    Attardi, G.5
  • 29
    • 0020608833 scopus 로고
    • The pattern of transcription of the human mitochondrial rRNA genes reveals two overlapping transcription units
    • Montoya, J., G. L. Gaines, and G. Attardi. 1983. The pattern of transcription of the human mitochondrial rRNA genes reveals two overlapping transcription units. Cell 34:151-159.
    • (1983) Cell , vol.34 , pp. 151-159
    • Montoya, J.1    Gaines, G.L.2    Attardi, G.3
  • 30
    • 0019124439 scopus 로고
    • The tRNA genes punctuate the reading of genetic information in human mitochondrial DNA
    • Ojala, D., C. Merket, R. Gelfand, and G. Attardi. 1980. The tRNA genes punctuate the reading of genetic information in human mitochondrial DNA. Cell 22:393-403.
    • (1980) Cell , vol.22 , pp. 393-403
    • Ojala, D.1    Merket, C.2    Gelfand, R.3    Attardi, G.4
  • 31
    • 0019444843 scopus 로고
    • tRNA punctuation model of RNA processing in human mitochondria
    • Ojala, D., J. Montoya, and G. Attardi. 1981. tRNA punctuation model of RNA processing in human mitochondria. Nature 290:470-474.
    • (1981) Nature , vol.290 , pp. 470-474
    • Ojala, D.1    Montoya, J.2    Attardi, G.3
  • 32
    • 0021099432 scopus 로고
    • Assignment of a polymorphic polypeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy
    • Oliver, N. A., R. D. Greenberg, and D. C. Wallace. 1983. Assignment of a polymorphic polypeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy. J. Biol. Chem. 258:5834-5839.
    • (1983) J. Biol. Chem. , vol.258 , pp. 5834-5839
    • Oliver, N.A.1    Greenberg, R.D.2    Wallace, D.C.3
  • 35
    • 0031049863 scopus 로고    scopus 로고
    • Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np-7445 deafness-associated mitochondrial mutation
    • Reid, F. M., A. Rovio, I. J. Holt, and H. T. Jacobs. 1997. Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np-7445 deafness-associated mitochondrial mutation. Hum. Mol. Genet. 6:443-449.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 443-449
    • Reid, F.M.1    Rovio, A.2    Holt, I.J.3    Jacobs, H.T.4
  • 36
    • 0028288558 scopus 로고
    • A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
    • Reid, F. M., G. A. Vernham, and H. T. Jacobs. 1994. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum. Mutat. 3:243-247.
    • (1994) Hum. Mutat. , vol.3 , pp. 243-247
    • Reid, F.M.1    Vernham, G.A.2    Jacobs, H.T.3
  • 37
    • 0028094531 scopus 로고
    • Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness
    • Reid, F. M., G. A. Vernham, and H. T. Jacobs. 1994. Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness. Hum. Mol. Genet. 3:1435-1436.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 1435-1436
    • Reid, F.M.1    Vernham, G.A.2    Jacobs, H.T.3
  • 39
    • 0026537702 scopus 로고
    • Transcription mapping of the Ori L region reveals novel precursors of mature RNA species and antisense RNAs in rat mitochondrial genome
    • Sbisà, E., A. Tullo, M. Nardelli, F. Tanzariello, and C. Saccone. 1992. Transcription mapping of the Ori L region reveals novel precursors of mature RNA species and antisense RNAs in rat mitochondrial genome. FEES Lett. 296:311-316.
    • (1992) FEES Lett. , vol.296 , pp. 311-316
    • Sbisà, E.1    Tullo, A.2    Nardelli, M.3    Tanzariello, F.4    Saccone, C.5
  • 42
    • 16944363113 scopus 로고    scopus 로고
    • Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
    • Torroni, A., M. Petrozzi, L. Durbano, D. Sellitto, M. Zeviani, F. Carrara, C. Carducci, V. Leuzzi, V. Carelli, P. Barboni, A. De Negri, and R. Scozzari. 1997. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am. J. Hum. Genet. 60:1107-1121.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 1107-1121
    • Torroni, A.1    Petrozzi, M.2    Durbano, L.3    Sellitto, D.4    Zeviani, M.5    Carrara, F.6    Carducci, C.7    Leuzzi, V.8    Carelli, V.9    Barboni, P.10    De Negri, A.11    Scozzari, R.12
  • 44
    • 0027971392 scopus 로고
    • Transcription of rat mitochondrial NADH-dehydrogenase subunits. Presence of antisense and precursor RNA species
    • Tullo, A., F. Tanzariello, A. M. D'Erchia, M. Nardelli, P. A. Papeo, E. Sbisà, and C. Saccone. 1994. Transcription of rat mitochondrial NADH-dehydrogenase subunits. Presence of antisense and precursor RNA species. FEBS Lett. 354:30-36.
    • (1994) FEBS Lett. , vol.354 , pp. 30-36
    • Tullo, A.1    Tanzariello, F.2    D'Erchia, A.M.3    Nardelli, M.4    Papeo, P.A.5    Sbisà, E.6    Saccone, C.7
  • 47
    • 0018070553 scopus 로고
    • Conservation of genes coding for proteins synthesized in human mitochondria
    • Yatscoff, R. W., S. Goldstein, and K. B. Freeman. 1978. Conservation of genes coding for proteins synthesized in human mitochondria. Somatic Cell Genet. 4:633-645.
    • (1978) Somatic Cell Genet. , vol.4 , pp. 633-645
    • Yatscoff, R.W.1    Goldstein, S.2    Freeman, K.B.3
  • 48
    • 0028865434 scopus 로고
    • Transfer RNA editing in land snail mitochondria
    • Yokobori, S., and S. Pääbo. 1995. Transfer RNA editing in land snail mitochondria. Proc. Natl. Acad. Sci. USA 92:10432-10435.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 10432-10435
    • Yokobori, S.1    Pääbo, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.