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Volumn 52, Issue 1, 2007, Pages 56-65

Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential

Author keywords

Hsp10; Hsp60; Mitochondria; Modifier gene; Molecular chaperone; Protein quality control; Short chain acyl CoA dehydrogenase; Sudden infant death syndrome

Indexed keywords

CHAPERONE; CHAPERONIN; HEAT SHOCK 10 KDA PROTEIN 1; HEAT SHOCK 60 KD PROTEIN 1; HEAT SHOCK PROTEIN 10; HEAT SHOCK PROTEIN 60; MITOCHONDRIAL ENZYME; UNCLASSIFIED DRUG;

EID: 33845914553     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0080-7     Document Type: Article
Times cited : (22)

References (42)
  • 2
    • 0034985656 scopus 로고    scopus 로고
    • Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency
    • Andresen BS, Dobrowolski SF, O'Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Bross P, Knudsen I, Banas R, Chace DH, Engel P, Naylor EW, Gregersen N (2001) Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet 68:1408-1418
    • (2001) Am J Hum Genet , vol.68 , pp. 1408-1418
    • Andresen, B.S.1    Dobrowolski, S.F.2    O'Reilly, L.3    Muenzer, J.4    McCandless, S.E.5    Frazier, D.M.6    Udvari, S.7    Bross, P.8    Knudsen, I.9    Banas, R.10    Chace, D.H.11    Engel, P.12    Naylor, E.W.13    Gregersen, N.14
  • 3
    • 0042035602 scopus 로고    scopus 로고
    • Human neurodegenerative disease modeling using Drosophila
    • Bonini NM, Fortini ME (2003) Human neurodegenerative disease modeling using Drosophila. Annu Rev Neurosci 26: 627-656
    • (2003) Annu Rev Neurosci , vol.26 , pp. 627-656
    • Bonini, N.M.1    Fortini, M.E.2
  • 4
    • 0037373275 scopus 로고    scopus 로고
    • Discovering genotypes underlying human phenotypes: Past successes for mendelian disease, future approaches for complex disease
    • Botstein D, Risch N (2003) Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet 33(Suppl):228-237
    • (2003) Nat Genet , vol.33 , Issue.SUPPL. , pp. 228-237
    • Botstein, D.1    Risch, N.2
  • 6
    • 0034064511 scopus 로고    scopus 로고
    • Conservation among HSP60 sequences in relation to structure, function, and evolution
    • Brocchieri L, Karlin S (2000) Conservation among HSP60 sequences in relation to structure, function, and evolution. Protein Sci 9:476-486
    • (2000) Protein Sci , vol.9 , pp. 476-486
    • Brocchieri, L.1    Karlin, S.2
  • 7
    • 0027369381 scopus 로고
    • Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation
    • Bross P, Andresen BS, Winter V, Kräutle F, Jensen TG, Nandy A, Kølvraa S, Ghisla S, Bolund L, Gregersen N (1993) Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation. Biochim Biophys Acta 1182:264-274
    • (1993) Biochim Biophys Acta , vol.1182 , pp. 264-274
    • Bross, P.1    Andresen, B.S.2    Winter, V.3    Kräutle, F.4    Jensen, T.G.5    Nandy, A.6    Kølvraa, S.7    Ghisla, S.8    Bolund, L.9    Gregersen, N.10
  • 9
    • 0037358264 scopus 로고    scopus 로고
    • Sudden infant death syndrome: Overview and update
    • Byard RW, Krous HF (2003) Sudden infant death syndrome: overview and update. Pediatr Dev Pathol 6:112-127
    • (2003) Pediatr Dev Pathol , vol.6 , pp. 112-127
    • Byard, R.W.1    Krous, H.F.2
  • 13
    • 23044498270 scopus 로고    scopus 로고
    • Down-regulation of Hsp60 expression by RNAi impairs folding of medium-chain acyl-CoA dehydogenase wild-type and disease-associated proteins
    • Corydon TJ, Hansen J, Bross P, Jensen TG (2005) Down-regulation of Hsp60 expression by RNAi impairs folding of medium-chain acyl-CoA dehydogenase wild-type and disease-associated proteins. Mol Genet Metab 85:260-270
    • (2005) Mol Genet Metab , vol.85 , pp. 260-270
    • Corydon, T.J.1    Hansen, J.2    Bross, P.3    Jensen, T.G.4
  • 14
    • 0033911995 scopus 로고    scopus 로고
    • Phenotypes of patients with "Simple" Mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
    • Dipple KM, McCabe ER (2000) Phenotypes of patients with "Simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet 66:1729-1735
    • (2000) Am J Hum Genet , vol.66 , pp. 1729-1735
    • Dipple, K.M.1    McCabe, E.R.2
  • 15
    • 0032531727 scopus 로고    scopus 로고
    • Identification of in vivo substrates of the yeast mitochondrial chaperonins reveals overlapping but non-identical requirement for hsp60 and hsp10
    • Dubaquie Y, Looser R, Fünfschilling U, Jenö P, Rospert S (1998) Identification of in vivo substrates of the yeast mitochondrial chaperonins reveals overlapping but non-identical requirement for hsp60 and hsp10. EMBO J 17:5868-5876
    • (1998) EMBO J , vol.17 , pp. 5868-5876
    • Dubaquie, Y.1    Looser, R.2    Fünfschilling, U.3    Jenö, P.4    Rospert, S.5
  • 16
    • 0020523318 scopus 로고
    • Genetics and linkage relationships of the C3 polymorphism: Discovery of C3-Se linkage and assignment of LES-C3-DM-Se-PEPD-Lu synteny to chromosome 19
    • Eiberg H, Mohr J, Nielsen LS, Simonsen N (1983) Genetics and linkage relationships of the C3 polymorphism: discovery of C3-Se linkage and assignment of LES-C3-DM-Se-PEPD-Lu synteny to chromosome 19. Clin Genet 24:159-170
    • (1983) Clin Genet , vol.24 , pp. 159-170
    • Eiberg, H.1    Mohr, J.2    Nielsen, L.S.3    Simonsen, N.4
  • 19
    • 0030023426 scopus 로고    scopus 로고
    • Deficient heat shock protein expression: A potential mechanism for the sudden infant death syndrome
    • Gozal D (1996) Deficient heat shock protein expression: a potential mechanism for the sudden infant death syndrome. Med Hypotheses 46:52-54
    • (1996) Med Hypotheses , vol.46 , pp. 52-54
    • Gozal, D.1
  • 22
    • 0028131509 scopus 로고
    • Decreased synthesis and inefficient mitochondrial import of hsp60 in a patient with a mitochondrial encephalomyopathy
    • Huckriede A, Agsteribbe E (1994) Decreased synthesis and inefficient mitochondrial import of hsp60 in a patient with a mitochondrial encephalomyopathy. Bba-Mol Basis Dis 1227:200-206
    • (1994) Bba-Mol Basis Dis , vol.1227 , pp. 200-206
    • Huckriede, A.1    Agsteribbe, E.2
  • 23
    • 0028808082 scopus 로고
    • Morphology of the mitochondria in heat shock protein 60 deficient fibroblasts from mitochondrial myopathy patients. Effects of stress conditions
    • Huckriede A, Heikema A, Sjollema K, Briones P, Agsteribbe E (1995) Morphology of the mitochondria in heat shock protein 60 deficient fibroblasts from mitochondrial myopathy patients. Effects of stress conditions. Virchows Archiv 427:159-165
    • (1995) Virchows Archiv , vol.427 , pp. 159-165
    • Huckriede, A.1    Heikema, A.2    Sjollema, K.3    Briones, P.4    Agsteribbe, E.5
  • 24
    • 0030693188 scopus 로고    scopus 로고
    • Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: An investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years
    • Lundemose JB, Kolvraa S, Gregersen N, Christensen E, Gregersen M (1997) Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years. Mol Pathol 50:212-217
    • (1997) Mol Pathol , vol.50 , pp. 212-217
    • Lundemose, J.B.1    Kolvraa, S.2    Gregersen, N.3    Christensen, E.4    Gregersen, M.5
  • 25
    • 25844458213 scopus 로고    scopus 로고
    • A yeast-based assay reveals a functional defect of the Q488H polymorphism in human Hsp90alpha
    • MacLean MJ, Llordella MM, Bot N, Picard D (2005) A yeast-based assay reveals a functional defect of the Q488H polymorphism in human Hsp90alpha. Biochem Biophys Res Commun 337:133-137
    • (2005) Biochem Biophys Res Commun , vol.337 , pp. 133-137
    • MacLean, M.J.1    Llordella, M.M.2    Bot, N.3    Picard, D.4
  • 26
    • 0027525938 scopus 로고
    • The strongly conserved carboxyl-terminus glycine methionine motif of the Escherichia coli GroEL chaperonin is dispensable
    • Mclennan NF, Girshovich AS, Lissin NM, Charters Y, Masters M (1993) The strongly conserved carboxyl-terminus glycine methionine motif of the Escherichia coli GroEL chaperonin is dispensable. Mol Microbiol 7:49-58
    • (1993) Mol Microbiol , vol.7 , pp. 49-58
    • Mclennan, N.F.1    Girshovich, A.S.2    Lissin, N.M.3    Charters, Y.4    Masters, M.5
  • 27
    • 0035287508 scopus 로고    scopus 로고
    • Modifier genes in mice and humans
    • Nadeau JH (2001) Modifier genes in mice and humans. Nat Rev Genet 2:165-174
    • (2001) Nat Rev Genet , vol.2 , pp. 165-174
    • Nadeau, J.H.1
  • 30
    • 0347481388 scopus 로고    scopus 로고
    • Misfolding, degradation, and aggregation of variant proteins: The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency
    • Pedersen CB, Bross P, Winter VS, Corydon TJ, Bolund L, Bartlett K, Vockley J, Gregersen N (2003) Misfolding, degradation, and aggregation of variant proteins: the molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. J Biol Chem 278:47449-47458
    • (2003) J Biol Chem , vol.278 , pp. 47449-47458
    • Pedersen, C.B.1    Bross, P.2    Winter, V.S.3    Corydon, T.J.4    Bolund, L.5    Bartlett, K.6    Vockley, J.7    Gregersen, N.8
  • 31
    • 0032789790 scopus 로고    scopus 로고
    • Molecular characterization of the 5′ control region and of two lethal alleles affecting the hsp60 gene in Drosophila melanogaster
    • Perezgasga L, Segovia L, Zurita M (1999) Molecular characterization of the 5′ control region and of two lethal alleles affecting the hsp60 gene in Drosophila melanogaster. FEBS Lett 456:269-273
    • (1999) FEBS Lett , vol.456 , pp. 269-273
    • Perezgasga, L.1    Segovia, L.2    Zurita, M.3
  • 32
    • 0030069860 scopus 로고    scopus 로고
    • Genetic complexity of the human hsp 60 gene
    • Pochon NAM, Mach B (1996) Genetic complexity of the human hsp 60 gene. Int Immunol 8:221-230
    • (1996) Int Immunol , vol.8 , pp. 221-230
    • Pochon, N.A.M.1    Mach, B.2
  • 33
    • 0037030713 scopus 로고    scopus 로고
    • Hsp90 as a capacitor of phenotypic variation
    • Queitsch C, Sangster TA, Lindquist S (2002) Hsp90 as a capacitor of phenotypic variation. Nature 417:618-624
    • (2002) Nature , vol.417 , pp. 618-624
    • Queitsch, C.1    Sangster, T.A.2    Lindquist, S.3
  • 34
    • 0029960577 scopus 로고    scopus 로고
    • Human heat shock protein gene polymorphisms and sudden infant death syndrome
    • Rahim RA, Boyd PA, Ainslie Patrick WJ, Burdon RH (1996) Human heat shock protein gene polymorphisms and sudden infant death syndrome. Arch Dis Child 75:451-452
    • (1996) Arch Dis Child , vol.75 , pp. 451-452
    • Rahim, R.A.1    Boyd, P.A.2    Ainslie Patrick, W.J.3    Burdon, R.H.4
  • 35
    • 0035895947 scopus 로고    scopus 로고
    • The importance of a mobile loop in regulating chaperonin/ co-chaperonin interaction: Humans versus Escherichia coli
    • Richardson A, Schwager F, Landry SJ, Georgopoulos C (2001) The importance of a mobile loop in regulating chaperonin/ co-chaperonin interaction: humans versus Escherichia coli. J Biol Chem 276:4981-4987
    • (2001) J Biol Chem , vol.276 , pp. 4981-4987
    • Richardson, A.1    Schwager, F.2    Landry, S.J.3    Georgopoulos, C.4
  • 36
    • 0032569851 scopus 로고    scopus 로고
    • Hsp90 as a capacitor for morphological evolution
    • Rutherford SL, Lindquist S (1998) Hsp90 as a capacitor for morphological evolution. Nature 396:336-342
    • (1998) Nature , vol.396 , pp. 336-342
    • Rutherford, S.L.1    Lindquist, S.2
  • 37
    • 0027981243 scopus 로고
    • Intramitochondrial folding and assembly of medium-chain acyl-CoA dehydrogenase (MCAD)-demonstration of impaired transfer of K304E-variant MCAD from its complex with Hsp60 to the native tetramer
    • Saijo T, Welch WJ, Tanaka K (1994) Intramitochondrial folding and assembly of medium-chain acyl-CoA dehydrogenase (MCAD)-demonstration of impaired transfer of K304E-variant MCAD from its complex with Hsp60 to the native tetramer. J Biol Chem 269:4401-4408
    • (1994) J Biol Chem , vol.269 , pp. 4401-4408
    • Saijo, T.1    Welch, W.J.2    Tanaka, K.3
  • 38
    • 3442885666 scopus 로고    scopus 로고
    • Association between low self-rated health and heterozygosity for -110a > c polymorphism in the promoter region of HSP70-1 in aged Danish twins
    • Singh R, Kolvraa S, Bross P, Gregersen N, Andersen NB, Frederiksen H, Christensen K, Rattan SI (2004) Association between low self-rated health and heterozygosity for -110a > c polymorphism in the promoter region of HSP70-1 in aged Danish twins. Biogerontology 5:169-176
    • (2004) Biogerontology , vol.5 , pp. 169-176
    • Singh, R.1    Kolvraa, S.2    Bross, P.3    Gregersen, N.4    Andersen, N.B.5    Frederiksen, H.6    Christensen, K.7    Rattan, S.I.8
  • 39
    • 0035451646 scopus 로고    scopus 로고
    • Unfolding the role of chaperones and chaperonins in human disease
    • Slavotinek AM, Biesecker LG (2001) Unfolding the role of chaperones and chaperonins in human disease. Trends Genet 17:528-535
    • (2001) Trends Genet , vol.17 , pp. 528-535
    • Slavotinek, A.M.1    Biesecker, L.G.2
  • 41
    • 17144455203 scopus 로고    scopus 로고
    • Gene polymorphisms and the use of the bonferroni correction factor: When and when not to apply?
    • Tanner MS, Sharrard MJ, Rigby AS (1997) Gene polymorphisms and the use of the bonferroni correction factor: when and when not to apply? Arch Dis Child 76:386
    • (1997) Arch Dis Child , vol.76 , pp. 386
    • Tanner, M.S.1    Sharrard, M.J.2    Rigby, A.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.