메뉴 건너뛰기




Volumn 8, Issue 13, 1999, Pages 2541-2549

Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBODY; CYTOCHROME C OXIDASE; EPITOPE; MEMBRANE PROTEIN; MUTANT PROTEIN; NUCLEAR PROTEIN; PROTEIN PRECURSOR; PROTEIN SURF 1; PROTEINASE K; UNCLASSIFIED DRUG;

EID: 0032760675     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.13.2541     Document Type: Article
Times cited : (100)

References (44)
  • 1
    • 0022976206 scopus 로고
    • Nuclear functions required for cytochrome c oxidase biogenesis in Saccharomyces cerevisiae. Characterization of mutants in 34 complementation groups
    • McEwen, J.E., Ko, C., Kloeckner-Gruissem, B. and Poyton, R.O. (1986) Nuclear functions required for cytochrome c oxidase biogenesis in Saccharomyces cerevisiae. Characterization of mutants in 34 complementation groups. J. Biol. Chem., 261, 11872-11879.
    • (1986) J. Biol. Chem. , vol.261 , pp. 11872-11879
    • McEwen, J.E.1    Ko, C.2    Kloeckner-Gruissem, B.3    Poyton, R.O.4
  • 2
    • 0025145542 scopus 로고
    • PET genes of Saccharomyces cerevisiae
    • Tzagoloff, A. and Dieckmann, C.L. (1990) PET genes of Saccharomyces cerevisiae. Microbiol. Rev., 54, 211-225.
    • (1990) Microbiol. Rev. , vol.54 , pp. 211-225
    • Tzagoloff, A.1    Dieckmann, C.L.2
  • 3
    • 0025071742 scopus 로고
    • Cytochrome oxidase assembly in yeast requires the product of COX11, a homolog of the P.denitrificans protein encoded by ORF3
    • Tzagoloff, A., Capitanio, N., Nobrega, M.P. and Gatti, D. (1990) Cytochrome oxidase assembly in yeast requires the product of COX11, a homolog of the P.denitrificans protein encoded by ORF3. EMBO J., 9, 2759-2764.
    • (1990) EMBO J. , vol.9 , pp. 2759-2764
    • Tzagoloff, A.1    Capitanio, N.2    Nobrega, M.P.3    Gatti, D.4
  • 4
    • 15844421373 scopus 로고    scopus 로고
    • Characterization of COX17, a yeast gene involved in copper metabolism and assembly of cytochrome oxidase
    • Glerum, D.M., Shtanko, A. and Tzagoloff, A. (1996) Characterization of COX17, a yeast gene involved in copper metabolism and assembly of cytochrome oxidase. J. Biol. Chem., 271, 14504-14509.
    • (1996) J. Biol. Chem. , vol.271 , pp. 14504-14509
    • Glerum, D.M.1    Shtanko, A.2    Tzagoloff, A.3
  • 5
    • 0029011611 scopus 로고
    • Cloning and characterization of COX14, whose product is required for assembly of yeast cytochrome oxidase
    • Glerum, D.M., Koerner, T.J. and Tzagoloff, A. (1995) Cloning and characterization of COX14, whose product is required for assembly of yeast cytochrome oxidase. J. Biol. Chem., 270, 15585-15590.
    • (1995) J. Biol. Chem. , vol.270 , pp. 15585-15590
    • Glerum, D.M.1    Koerner, T.J.2    Tzagoloff, A.3
  • 6
    • 9444296498 scopus 로고    scopus 로고
    • SCO1 and SCO2 act as high copy suppressors of a mitochondrial copper recruitment defect in Saccharomyces cerevisiae
    • Glerum, D.M., Shtanko, A. and Tzagoloff, A. (1996) SCO1 and SCO2 act as high copy suppressors of a mitochondrial copper recruitment defect in Saccharomyces cerevisiae. J. Biol. Chem., 271, 20531-20535.
    • (1996) J. Biol. Chem. , vol.271 , pp. 20531-20535
    • Glerum, D.M.1    Shtanko, A.2    Tzagoloff, A.3
  • 7
    • 0029746255 scopus 로고    scopus 로고
    • Cloning and characterization of PET100, a gene required for the assembly of yeast cytochrome c oxidase
    • Church, C., Chapon, C. and Poyton, R.O. (1996) Cloning and characterization of PET100, a gene required for the assembly of yeast cytochrome c oxidase. J. Biol. Chem., 271, 18499-18507.
    • (1996) J. Biol. Chem. , vol.271 , pp. 18499-18507
    • Church, C.1    Chapon, C.2    Poyton, R.O.3
  • 8
    • 0028109935 scopus 로고
    • Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxa1-mutation in Saccharomyces cerevisiae
    • Bonnefoy, N. et al. (1994) Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxa1-mutation in Saccharomyces cerevisiae. Proc. Natl Acad. Sci. USA, 91, 11978-11982.
    • (1994) Proc. Natl Acad. Sci. USA , vol.91 , pp. 11978-11982
    • Bonnefoy, N.1
  • 9
    • 0028038276 scopus 로고
    • Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant
    • Glerum, D.M. and Tzagoloff, A. (1994) Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant. Proc. Natl Acad. Sci. USA, 91, 8452-8456.
    • (1994) Proc. Natl Acad. Sci. USA , vol.91 , pp. 8452-8456
    • Glerum, D.M.1    Tzagoloff, A.2
  • 10
    • 0031045676 scopus 로고    scopus 로고
    • Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment
    • Amaravadi, R., Glerum, D.M. and Tzagoloff, A. (1997) Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment. Hum. Genet., 99, 329-333.
    • (1997) Hum. Genet. , vol.99 , pp. 329-333
    • Amaravadi, R.1    Glerum, D.M.2    Tzagoloff, A.3
  • 11
    • 0032534869 scopus 로고    scopus 로고
    • Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain
    • Petruzzella, V. et al. (1998) Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Genomics, 54, 494-504.
    • (1998) Genomics , vol.54 , pp. 494-504
    • Petruzzella, V.1
  • 12
    • 0344145471 scopus 로고
    • The mouse surfeit locus contains a very tight cluster of four 'housekeeping' genes that is conserved through evolution
    • Williams, T., Yon, J., Huxley, C. and Fried, M. (1988) The mouse surfeit locus contains a very tight cluster of four 'housekeeping' genes that is conserved through evolution. Proc. Natl Acad. Sci. USA, 85, 3527-3530.
    • (1988) Proc. Natl Acad. Sci. USA , vol.85 , pp. 3527-3530
    • Williams, T.1    Yon, J.2    Huxley, C.3    Fried, M.4
  • 13
    • 0032470811 scopus 로고    scopus 로고
    • Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
    • Tiranti, V. et al. (1998) Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am. J. Hum. Genet., 63, 1609-1621.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 1609-1621
    • Tiranti, V.1
  • 14
    • 17344362021 scopus 로고    scopus 로고
    • SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
    • Zhu, Z. et al. (1998) SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nature Genet., 20, 337-343.
    • (1998) Nature Genet. , vol.20 , pp. 337-343
    • Zhu, Z.1
  • 15
    • 0023718668 scopus 로고
    • Characterization of cytochrome-c oxidase mutants in human fibroblasts
    • Glerum, D.M., Yanamura, W., Capaldi, R.A. and Robinson, B.H. (1988) Characterization of cytochrome-c oxidase mutants in human fibroblasts. FEBS Lett., 236, 100-104.
    • (1988) FEBS Lett. , vol.236 , pp. 100-104
    • Glerum, D.M.1    Yanamura, W.2    Capaldi, R.A.3    Robinson, B.H.4
  • 16
    • 0024440763 scopus 로고
    • Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome)
    • Hayasaka, K., Brown, G.K., Danks, D.M., Droste, M. and Kadenbach, B. (1989) Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome). J. Inherit. Metab. Dis., 12, 247-256.
    • (1989) J. Inherit. Metab. Dis. , vol.12 , pp. 247-256
    • Hayasaka, K.1    Brown, G.K.2    Danks, D.M.3    Droste, M.4    Kadenbach, B.5
  • 17
    • 0025020444 scopus 로고
    • The mouse surfeit locus contains a cluster of six genes associated with four CpG-rich islands in 32 kilobases of genomic DNA
    • Huxley, C. and Fried, M. (1990) The mouse surfeit locus contains a cluster of six genes associated with four CpG-rich islands in 32 kilobases of genomic DNA. Mol. Cell. Biol., 10, 605-614.
    • (1990) Mol. Cell. Biol. , vol.10 , pp. 605-614
    • Huxley, C.1    Fried, M.2
  • 18
    • 0026086855 scopus 로고
    • The bidirectional promoter of the divergently transcribed mouse Surf-1 and Surf-2 genes
    • Lennard, A.C. and Fried, M. (1991) The bidirectional promoter of the divergently transcribed mouse Surf-1 and Surf-2 genes. Mol. Cell. Biol., 11, 1281-1294.
    • (1991) Mol. Cell. Biol. , vol.11 , pp. 1281-1294
    • Lennard, A.C.1    Fried, M.2
  • 19
    • 0027984277 scopus 로고
    • The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human
    • Lennard, A., Gaston, K. and Fried, M. (1994) The Surf-1 and Surf-2 genes and their essential bidirectional promoter elements are conserved between mouse and human. DNA Cell Biol., 13, 1117-1126.
    • (1994) DNA Cell Biol. , vol.13 , pp. 1117-1126
    • Lennard, A.1    Gaston, K.2    Fried, M.3
  • 20
    • 0023002288 scopus 로고
    • The MES-1 murine enhancer element is closely associated with the heterogeneous 5' ends of two divergent transcription units
    • Williams, T.J. and Fried, M. (1986) The MES-1 murine enhancer element is closely associated with the heterogeneous 5' ends of two divergent transcription units. Mol. Cell. Biol., 6, 4558-4569.
    • (1986) Mol. Cell. Biol. , vol.6 , pp. 4558-4569
    • Williams, T.J.1    Fried, M.2
  • 21
    • 0026690520 scopus 로고
    • Conservation of the organization of five tightly clustered genes over 600 million years of divergent evolution
    • Colombo, P., Yon, J., Garson, K. and Fried, M. (1992) Conservation of the organization of five tightly clustered genes over 600 million years of divergent evolution. Proc. Natl Acad. Sci. USA, 89, 6358-6362.
    • (1992) Proc. Natl Acad. Sci. USA , vol.89 , pp. 6358-6362
    • Colombo, P.1    Yon, J.2    Garson, K.3    Fried, M.4
  • 22
    • 0031009910 scopus 로고    scopus 로고
    • SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration
    • Mashkevich, G., Repetto, B., Glerum, D.M., Jin, C. and Tzagoloff, A. (1997) SHY1, the yeast homolog of the mammalian SURF-1 gene, encodes a mitochondrial protein required for respiration. J. Biol. Chem., 272, 14356-14364.
    • (1997) J. Biol. Chem. , vol.272 , pp. 14356-14364
    • Mashkevich, G.1    Repetto, B.2    Glerum, D.M.3    Jin, C.4    Tzagoloff, A.5
  • 23
    • 0029915525 scopus 로고    scopus 로고
    • Computational method to predict mitochondrially imported proteins and their targeting sequences
    • Claros, M.G. and Vincens, P. (1996) Computational method to predict mitochondrially imported proteins and their targeting sequences. Eur. J. Biochem., 241, 779-786.
    • (1996) Eur. J. Biochem. , vol.241 , pp. 779-786
    • Claros, M.G.1    Vincens, P.2
  • 24
    • 0019887744 scopus 로고
    • Phase separation of integral membrane proteins in Triton X-114 solution
    • Bordier, C. (1981) Phase separation of integral membrane proteins in Triton X-114 solution. J. Biol. Chem., 256, 1604-1607.
    • (1981) J. Biol. Chem. , vol.256 , pp. 1604-1607
    • Bordier, C.1
  • 25
    • 0025736867 scopus 로고
    • Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome
    • Lombes, A. et al. (1991) Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Neurology, 41, 491-498.
    • (1991) Neurology , vol.41 , pp. 491-498
    • Lombes, A.1
  • 26
    • 0025076235 scopus 로고
    • COX10 codes for a protein homologous to the ORF1 product of Paracoccus denitrificans and is required for the synthesis of yeast cytochrome oxidase
    • Nobrega, M.P., Nobrega, F.G. and Tzagoloff, A. (1990) COX10 codes for a protein homologous to the ORF1 product of Paracoccus denitrificans and is required for the synthesis of yeast cytochrome oxidase. J. Biol. Chem., 265, 14220-14226.
    • (1990) J. Biol. Chem. , vol.265 , pp. 14220-14226
    • Nobrega, M.P.1    Nobrega, F.G.2    Tzagoloff, A.3
  • 27
    • 0030750778 scopus 로고    scopus 로고
    • Submitochondrial distributions and stabilities of subunits 4, 5, and 6 of yeast cytochrome oxidase in assembly defective mutants
    • Glerum, D.M. and Tzagoloff, A. (1997) Submitochondrial distributions and stabilities of subunits 4, 5, and 6 of yeast cytochrome oxidase in assembly defective mutants. FEBS Lett., 412, 410-414.
    • (1997) FEBS Lett. , vol.412 , pp. 410-414
    • Glerum, D.M.1    Tzagoloff, A.2
  • 28
    • 0026058705 scopus 로고
    • Immunological identification of yeast SCO1 protein as a component of the inner mitochondrial membrane
    • Buchwald, P., Krummeck, G. and Rodel, G. (1991) Immunological identification of yeast SCO1 protein as a component of the inner mitochondrial membrane. Mol. Gen. Genet., 229, 413-420.
    • (1991) Mol. Gen. Genet. , vol.229 , pp. 413-420
    • Buchwald, P.1    Krummeck, G.2    Rodel, G.3
  • 29
    • 0020490528 scopus 로고
    • The transmembrane domain of glycophorin A as studied by cross-linking using photoactivatable phospholipids
    • Ross, A.H., Radhakrishnan, R., Robson, R.J. and Khorana, H.G. (1982) The transmembrane domain of glycophorin A as studied by cross-linking using photoactivatable phospholipids. J. Biol. Chem., 257, 4152-4161.
    • (1982) J. Biol. Chem. , vol.257 , pp. 4152-4161
    • Ross, A.H.1    Radhakrishnan, R.2    Robson, R.J.3    Khorana, H.G.4
  • 30
    • 0344589334 scopus 로고    scopus 로고
    • Structure, dynamics and composition of the lipid-protein interface. Perspectives from spin-labelling
    • Marsh, D. and Horvath, L.I. (1998) Structure, dynamics and composition of the lipid-protein interface. Perspectives from spin-labelling. Biochim. Biophys. Acta, 1376, 267-296.
    • (1998) Biochim. Biophys. Acta , vol.1376 , pp. 267-296
    • Marsh, D.1    Horvath, L.I.2
  • 32
    • 0028822684 scopus 로고
    • A general method for mapping tertiary contacts between amino acid residues in membrane-embedded proteins
    • Yu, H., Kono, M., McKee, T.D. and Oprian, D.D. (1995) A general method for mapping tertiary contacts between amino acid residues in membrane-embedded proteins. Biochemistry, 34, 14963-14969.
    • (1995) Biochemistry , vol.34 , pp. 14963-14969
    • Yu, H.1    Kono, M.2    McKee, T.D.3    Oprian, D.D.4
  • 33
    • 0027252562 scopus 로고
    • An immortalized human fibroblast cell line is permissive for human cytomegalovirus infection
    • Compton, T. (1993) An immortalized human fibroblast cell line is permissive for human cytomegalovirus infection. J. Virol., 67, 3644-3648.
    • (1993) J. Virol. , vol.67 , pp. 3644-3648
    • Compton, T.1
  • 34
    • 0010045614 scopus 로고    scopus 로고
    • Extension of life-span by introduction of telomerase into normal human cells
    • Bodnar, A.C. et al. (1998) Extension of life-span by introduction of telomerase into normal human cells. Science, 279, 349-352.
    • (1998) Science , vol.279 , pp. 349-352
    • Bodnar, A.C.1
  • 35
    • 0030960389 scopus 로고    scopus 로고
    • Alteration of a mitochondrial outer membrane signal anchor sequence that permits its insertion into the inner membrane. Contribution of hydrophobic residues
    • Steenaart, N.A. and Shore, G.C. (1997) Alteration of a mitochondrial outer membrane signal anchor sequence that permits its insertion into the inner membrane. Contribution of hydrophobic residues. J. Biol. Chem., 272, 12057-12061.
    • (1997) J. Biol. Chem. , vol.272 , pp. 12057-12061
    • Steenaart, N.A.1    Shore, G.C.2
  • 36
    • 0000448017 scopus 로고    scopus 로고
    • Single-step purification/solubilization of recombinant proteins: Application to surfactant protein B
    • Holzinger, A., Phillips, K.S. and Weaver, T.E. (1996) Single-step purification/solubilization of recombinant proteins: application to surfactant protein B. Biotechniques, 20, 804-806, 808.
    • (1996) Biotechniques , vol.20 , pp. 804-806
    • Holzinger, A.1    Phillips, K.S.2    Weaver, T.E.3
  • 37
    • 0000004493 scopus 로고    scopus 로고
    • Expression of mtDNA and nDNA encoded respiratory chain proteins in chemically and genetically-derived Rho° human fibroblasts: A comparison of subunit proteins in normal fibroblasts treated with ethidium bromide and fibroblasts from a patient with mtDNA depletion syndrome
    • Marusich, M.F. et al. (1997) Expression of mtDNA and nDNA encoded respiratory chain proteins in chemically and genetically-derived Rho° human fibroblasts: a comparison of subunit proteins in normal fibroblasts treated with ethidium bromide and fibroblasts from a patient with mtDNA depletion syndrome. Biochim. Biophys. Acta, 1362, 145-159.
    • (1997) Biochim. Biophys. Acta , vol.1362 , pp. 145-159
    • Marusich, M.F.1
  • 38
    • 0022767368 scopus 로고
    • Redesign of retrovirus packaging cell lines to avoid recombination leading to helper virus production
    • Miller, A.D. and Buttimore, C. (1986) Redesign of retrovirus packaging cell lines to avoid recombination leading to helper virus production. Mol. Cell. Biol., 6, 2895-2902.
    • (1986) Mol. Cell. Biol. , vol.6 , pp. 2895-2902
    • Miller, A.D.1    Buttimore, C.2
  • 39
    • 0027243120 scopus 로고
    • Use of retroviral vectors for gene transfer and expression
    • Miller, A.D., Miller, D.G., Garcia, J.V. and Lynch, C.M. (1993) Use of retroviral vectors for gene transfer and expression. Methods Enzymol., 217, 581-599.
    • (1993) Methods Enzymol. , vol.217 , pp. 581-599
    • Miller, A.D.1    Miller, D.G.2    Garcia, J.V.3    Lynch, C.M.4
  • 40
    • 0023871422 scopus 로고
    • A safe packaging line for gene transfer: Separating viral genes on two different plasmids
    • Markowitz, D., Goff, S. and Bank, A. (1988) A safe packaging line for gene transfer: separating viral genes on two different plasmids. J. Virol., 62, 1120-1124.
    • (1988) J. Virol. , vol.62 , pp. 1120-1124
    • Markowitz, D.1    Goff, S.2    Bank, A.3
  • 41
    • 0344563473 scopus 로고    scopus 로고
    • Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts
    • Lochmuller, H., Johns, T. and Shoubridge, E.A. (1999) Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts. Exp. Cell Res., 248, 186-193.
    • (1999) Exp. Cell Res. , vol.248 , pp. 186-193
    • Lochmuller, H.1    Johns, T.2    Shoubridge, E.A.3
  • 42
    • 0020039866 scopus 로고
    • Isolation of intracellular membranes by means of sodium carbonate treatment: Application to endoplasmic reticulum
    • Fujiki, Y., Hubbard, A.L., Fowler, S. and Lazarow, P.B. (1982) Isolation of intracellular membranes by means of sodium carbonate treatment: application to endoplasmic reticulum. J. Cell Biol., 93, 97-102.
    • (1982) J. Cell Biol. , vol.93 , pp. 97-102
    • Fujiki, Y.1    Hubbard, A.L.2    Fowler, S.3    Lazarow, P.B.4
  • 43
    • 0028853625 scopus 로고
    • Mammalian cytochrome-c oxidase: Characterization of enzyme and immunological detection of subunits in tissue extracts and whole cells
    • Capaldi, R.A., Marusich, M.F. and Taanman, J.W. (1995) Mammalian cytochrome-c oxidase: characterization of enzyme and immunological detection of subunits in tissue extracts and whole cells. Methods Enzymol., 260, 117-132.
    • (1995) Methods Enzymol. , vol.260 , pp. 117-132
    • Capaldi, R.A.1    Marusich, M.F.2    Taanman, J.W.3
  • 44
    • 77957010982 scopus 로고
    • Citrate synthase
    • Srere, P.A. (1969) Citrate synthase. Methods Enzymol., 13, 3-11.
    • (1969) Methods Enzymol. , vol.13 , pp. 3-11
    • Srere, P.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.