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Volumn 28, Issue 2, 2011, Pages 165-171

Modifier factors influencing the phenotypic manifestation of the deafness-associated mitochondrial DNA mutations

Author keywords

Aminoglycoside antibiotics; Mitochondrial DNA haplotype; Mitochondrial DNA mutations; Nonsyndromic deafness; Nuclear modifier gene

Indexed keywords

AMINOGLYCOSIDE; MITOCHONDRIAL DNA; RNA 12S; TRANSFER RNA;

EID: 79955876187     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2011.02.010     Document Type: Review
Times cited : (7)

References (56)
  • 2
    • 0037092599 scopus 로고    scopus 로고
    • Genetics, genomics and gene discovery in the auditory system
    • Morton CC. Genetics, genomics and gene discovery in the auditory system. Hum Mol Genet, 2002, 11:1229-1240. (Pubitemid 34567502)
    • (2002) Human Molecular Genetics , vol.11 , Issue.10 , pp. 1229-1240
    • Morton, C.C.1
  • 3
    • 0025980075 scopus 로고
    • Genetic aspects of antibiotic induced deafness: Mitochondrial inheritance
    • Hu DN, Qui WQ, Wu BT, et al. Genetic aspects of antibiotic induced deafness: mitochondrial inheritance. J Med Genet, 1991, 28:79-83.
    • (1991) J Med Genet , vol.28 , pp. 79-83
    • Hu, D.N.1    Qui, W.Q.2    Wu, B.T.3
  • 4
    • 20344407298 scopus 로고    scopus 로고
    • Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss
    • DOI 10.1007/s00439-005-1276-1
    • Li Z, Li R, Chen J, et al. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss. Hum Genet, 2005, 117:9-15. (Pubitemid 40778777)
    • (2005) Human Genetics , vol.117 , Issue.1 , pp. 9-15
    • Li, Z.1    Li, R.2    Chen, J.3    Liao, Z.4    Zhu, Y.5    Qian, Y.6    Xiong, S.7    Heman-Ackah, S.8    Wu, J.9    Choo, D.I.10    Guan, M.-X.11
  • 5
    • 79251600222 scopus 로고    scopus 로고
    • Mitochondrial 12S rRNA matations associated with aminoglycoside ototoxicity
    • Guan MX. Mitochondrial 12S rRNA matations associated with aminoglycoside ototoxicity. Mitochondrion, 2011, 11:237-245.
    • (2011) Mitochondrion , vol.11 , pp. 237-245
    • Guan, M.X.1
  • 6
    • 1842678661 scopus 로고    scopus 로고
    • Molecular pathogenetic mechanism of maternally inherited deafness
    • Guan MX. Molecular pathogenetic mechanism of maternally inherited deafness. Ann N Y Acad Sci, 2004, 1011:259-271.
    • (2004) Ann N Y Acad Sci , vol.1011 , pp. 259-271
    • Guan, M.X.1
  • 10
    • 1842678661 scopus 로고    scopus 로고
    • Molecular pathogenetic mechanism of maternally inherited deafness
    • Guan MX. Molecular pathogenetic mechanism of maternally inherited deafness. Ann N Y Acad Sci, 2004, 1011:259-271.
    • (2004) Ann N Y Acad Sci , vol.1011 , pp. 259-271
    • Guan, M.X.1
  • 11
    • 73849107486 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations associated with aminoglycoside ototoxicity
    • Guan MX, Zhao LD. Mitochondrial DNA mutations associated with aminoglycoside ototoxicity. Chin J Otology, 2006, 4:98-105.
    • (2006) Chin J Otology , vol.4 , pp. 98-105
    • Guan, M.X.1    Zhao, L.D.2
  • 12
    • 77952821177 scopus 로고    scopus 로고
    • Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss
    • Lu J, Li Z, Zhu Y, et al. Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss. Mitochondrion, 2010, 10:380-390.
    • (2010) Mitochondrion , vol.10 , pp. 380-390
    • Lu, J.1    Li, Z.2    Zhu, Y.3
  • 13
    • 0347003512 scopus 로고    scopus 로고
    • Maternally Inherited Aminoglycoside-Induced and Nonsyndromic Deafness Is Associated with the Novel C1494T Mutation in the Mitochondrial 12S rRNa Gene in a Large Chinese Family
    • DOI 10.1086/381133
    • Zhao H, Li R, Wang Q, et al. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet, 2004, 74:139-152. (Pubitemid 38085245)
    • (2004) American Journal of Human Genetics , vol.74 , Issue.1 , pp. 139-152
    • Zhao, H.1    Li, R.2    Wang, Q.3    Yan, Q.4    Deng, J.-H.5    Han, D.6    Bai, Y.7    Young, W.-Y.8    Guan, M.-X.9
  • 14
    • 20044362198 scopus 로고    scopus 로고
    • Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss
    • DOI 10.1093/nar/gki262
    • Zhao H, Young WY, Yan Q, et al. Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and nonsyndromic hearing loss. Nucleic Acids Res, 2005, 33:1132-1139. (Pubitemid 41430533)
    • (2005) Nucleic Acids Research , vol.33 , Issue.3 , pp. 1132-1139
    • Zhao, H.1    Young, W.-Y.2    Yan, Q.3    Li, R.4    Cao, J.5    Wang, Q.6    Li, X.7    Peters, J.L.8    Han, D.9    Guan, M.-X.10
  • 15
    • 34247176852 scopus 로고    scopus 로고
    • Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C>T mutation in the mitochondrial 12S rRNA gene
    • Rodríguez-Ballesteros M, Olarte M, Aguirre LA, et al. Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C>T mutation in the mitochondrial 12S rRNA gene. J Med Genet, 2006, 43:e54.
    • (2006) J Med Genet , vol.43
    • Rodríguez-Ballesteros, M.1    Olarte, M.2    Aguirre, L.A.3
  • 18
    • 0035869153 scopus 로고    scopus 로고
    • Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation
    • Guan MX, Fischel-Ghodsian N, Attardi G. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum Mol Genet, 2001, 10:573-580. (Pubitemid 32229361)
    • (2001) Human Molecular Genetics , vol.10 , Issue.6 , pp. 573-580
    • Guan, M.-X.1    Fischel-Ghodsian, N.2    Attardi, G.3
  • 19
    • 33746559647 scopus 로고    scopus 로고
    • Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations
    • Guan MX, Yan Q, Li X, et al. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Am J Hum Genet, 2006, 79:291-302.
    • (2006) Am J Hum Genet , vol.79 , pp. 291-302
    • Guan, M.X.1    Yan, Q.2    Li, X.3
  • 20
    • 70450250078 scopus 로고    scopus 로고
    • Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation
    • Lu J, Qian Y, Li Z, et al. Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation. Mitochondrion, 2010, 10:69-81.
    • (2010) Mitochondrion , vol.10 , pp. 69-81
    • Lu, J.1    Qian, Y.2    Li, Z.3
  • 21
    • 79955823028 scopus 로고    scopus 로고
    • Nuclear genes and mitochondrial genes associated with mitochondrial diseases
    • Yan QF, Guan MX. Nuclear genes and mitochondrial genes associated with mitochondrial diseases. Chin Bullet Life Sci, 2008, 20:496-505.
    • (2008) Chin Bullet Life Sci , vol.20 , pp. 496-505
    • Yan, Q.F.1    Guan, M.X.2
  • 23
    • 77950520149 scopus 로고    scopus 로고
    • Ser(UCN) 7505T>C mutation in a Han Chinese family
    • Ser(UCN) 7505T>C mutation in a Han Chinese family. Mol Genet Metab, 2010, 100:57-64.
    • (2010) Mol Genet Metab , vol.100 , pp. 57-64
    • Tang, X.1    Li, R.2    Zheng, J.3
  • 26
    • 34047266817 scopus 로고    scopus 로고
    • Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation
    • Tang X, Yang L, Zhu Y, et al. Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. Gene, 2007, 393:11-19.
    • (2007) Gene , vol.393 , pp. 11-19
    • Tang, X.1    Yang, L.2    Zhu, Y.3
  • 27
    • 0030016359 scopus 로고    scopus 로고
    • Biochemical evidence for nuclear gene involvement in phonotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation
    • DOI 10.1093/hmg/5.7.963
    • Guan MX, Fischel-Ghodsian N, Attardi G. Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum Mol Genet, 1996, 5:963-971. (Pubitemid 26232276)
    • (1996) Human Molecular Genetics , vol.5 , Issue.7 , pp. 963-971
    • Guan, M.-X.1    Fischel-Ghodsian, N.2    Attardi, G.3
  • 28
    • 0033858002 scopus 로고    scopus 로고
    • A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity
    • Guan MX, Fischel-Ghodsian N, Attardi G. A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. Hum Mol Genet, 2000, 9:1787-1793. (Pubitemid 30608612)
    • (2000) Human Molecular Genetics , vol.9 , Issue.12 , pp. 1787-1793
    • Guan, M.-X.1    Fischel-Ghodsian, N.2    Attardi, G.3
  • 29
    • 70350329459 scopus 로고    scopus 로고
    • Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation
    • Qian Y, Guan MX. Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation. Antimicrob Agents Chemother, 2009, 53:4612-4618.
    • (2009) Antimicrob Agents Chemother , vol.53 , pp. 4612-4618
    • Qian, Y.1    Guan, M.X.2
  • 35
    • 33847191391 scopus 로고    scopus 로고
    • Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians
    • Fuku N, Park KS, Yamada Y, et al. Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians. Am J Hum Genet, 2007, 80:407-415.
    • (2007) Am J Hum Genet , vol.80 , pp. 407-415
    • Fuku, N.1    Park, K.S.2    Yamada, Y.3
  • 36
    • 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 11184
    • Torroni A, Petrozzi M, D ' Urbano L, et al. 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 11184. Am J Hum Genet, 1997, 60:1107-1121.
    • (1997) Am J Hum Genet , vol.60 , pp. 1107-1121
    • Torroni, A.1    Petrozzi, M.2    D'Urbano, L.3
  • 37
    • 57149125444 scopus 로고    scopus 로고
    • Thr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families
    • Thr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families. Pharmacogen Genomics, 2008, 18:1059-1070.
    • (2008) Pharmacogen Genomics , vol.18 , pp. 1059-1070
    • Wang, X.1    Lu, J.2    Zhu, Y.3
  • 38
    • 25144501268 scopus 로고    scopus 로고
    • Ser(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and non-syndromic hearing loss
    • Ser(UCN) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and non-syndromic hearing loss. Am J Med Genet, 2005, 138A:135-110.
    • (2005) Am J Med Genet , vol.138 A , pp. 135-1110
    • Yuan, H.1    Qian, Y.2    Xu, Y.3
  • 42
    • 33745150756 scopus 로고    scopus 로고
    • Thr A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family
    • DOI 10.1016/j.gene.2006.02.014, PII S0378111906001697
    • (Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family. Gene, 2006, 376:79-86. (Pubitemid 43903570)
    • (2006) Gene , vol.376 , Issue.1-2 , pp. 79-86
    • Li, R.1    Qu, J.2    Zhou, X.3    Tong, Y.4    Hu, Y.5    Qian, Y.6    Lu, F.7    Mo, J.Q.8    West, C.E.9    Guan, M.-X.10
  • 44
    • 0032561194 scopus 로고    scopus 로고
    • MTO1 codes for a mitochondrial protein required for respiration in paromomycinresistant mutants of Saccharomyces cerevisiae
    • Colby G, Wu M, Tzagoloff A. MTO1 codes for a mitochondrial protein required for respiration in paromomycinresistant mutants of Saccharomyces cerevisiae. J Biol Chem, 1998, 273:27945-27952.
    • (1998) J Biol Chem , vol.273 , pp. 27945-27952
    • Colby, G.1    Wu, M.2    Tzagoloff, A.3
  • 45
    • 0027218236 scopus 로고
    • MSS1, a nuclear-encoded mitochondrial GPTase involved in the expression of COX1 subunit of cytochrome C oxidase
    • DOI 10.1006/jmbi.1993.1371
    • Decoster E, Vassal A, Faye G. MSS1, a nuclear-encoded mitochondrial GTPase involved in the expression of COX1 subunit of cytochrome c oxidase. J Mol Biol, 1993, 232:79-88. (Pubitemid 23245403)
    • (1993) Journal of Molecular Biology , vol.232 , Issue.1 , pp. 79-88
    • Decoster, E.1    Vassal, A.2    Faye, G.3
  • 46
    • 0033573089 scopus 로고    scopus 로고
    • The Escherichia coli trmE (mnmE) gene, involved in tRNA modification, codes for an evolulionarily conserved GTPase with unusual biochemical properties
    • Cabedo H, Macian F, Villarroya M, et al. The Escherichia coli trmE (mnmE) gene, involved in tRNA modification, codes for an evolulionarily conserved GTPase with unusual biochemical properties. EMBO J, 1999, 18:7063-7076.
    • (1999) EMBO J , vol.18 , pp. 7063-7076
    • Cabedo, H.1    Macian, F.2    Villarroya, M.3
  • 47
    • 0035449350 scopus 로고    scopus 로고
    • Translational misreading: A tRNA modification counteracts a +2 ribosomal frameshift
    • DOI 10.1101/gad.207701
    • Brégeon D, Colot V, Miroslav M, et al. Translational misreading: a tRNA modification counteracts a +2 ribosomal frameshift. Genes Dev, 2001, 15:2295-2306. (Pubitemid 32843841)
    • (2001) Genes and Development , vol.15 , Issue.17 , pp. 2295-2306
    • Bregeon, D.1    Colot, V.2    Radman, M.3    Taddei, F.4
  • 48
    • 0037417771 scopus 로고    scopus 로고
    • Mnma and IscS are required for in vitro 2-thiouridine biosynthesis in Escherichia coli
    • DOI 10.1021/bi026536+
    • Kambampati R, Lauhon CT. MnmA and IscS are required for in vitro 2-thiouridine biosynthesis in Escherichia coli. Biochemistry, 2003, 42-1109-1117. (Pubitemid 36159546)
    • (2003) Biochemistry , vol.42 , Issue.4 , pp. 1109-1117
    • Kambampati, R.1    Lauhon, C.T.2
  • 49
    • 1642554457 scopus 로고    scopus 로고
    • Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase
    • Yan Q, Guan MX. Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate- methyltransferase. Biochim Biophys Acta, 2004, 1676:119-126.
    • (2004) Biochim Biophys Acta , vol.1676 , pp. 119-126
    • Yan, Q.1    Guan, M.X.2
  • 50
    • 0000612435 scopus 로고    scopus 로고
    • Stable RNA modification
    • Neidhardt FC, Curtiss RIII, Ingraham JL, et al. Washington DC: American Society for Microbiology
    • Björk GR. Stable RNA modification. In: Neidhardt FC, Curtiss RIII, Ingraham JL, et al. Escherichia coli and Salmonella: Cellular and Molecular Biology. Washington DC: American Society for Microbiology, 1996, 861-886.
    • (1996) Escherichia Coli and Salmonella: Cellular and Molecular Biology , pp. 861-886
    • Björk, G.R.1
  • 51
    • 12544259245 scopus 로고    scopus 로고
    • Mitochodnria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs: Implications for the molecular pathogenesis of human mitochondrial diseases
    • Umeda N, Suzuki T, Yukawa M, et al. Mitochodnria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs: implications for the molecular pathogenesis of human mitochondrial diseases. J Biol Chem, 2005, 280:1613-1624.
    • (2005) J Biol Chem , vol.280 , pp. 1613-1624
    • Umeda, N.1    Suzuki, T.2    Yukawa, M.3
  • 52
    • 73649147996 scopus 로고    scopus 로고
    • Gln altered mitochondrial biogenesis and respiration
    • Gln altered mitochondrial biogenesis and respiration. J Mol Biol, 2010, 395:1038-1048.
    • (2010) J Mol Biol , vol.395 , pp. 1038-1048
    • Wang, X.1    Yan, Q.2    Guan, M.X.3
  • 53
    • 64549152445 scopus 로고    scopus 로고
    • Mutation in MTO1 involved in tRNA modification impairs mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae
    • Wang X, Yan Q, Guan MX. Mutation in MTO1 involved in tRNA modification impairs mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae. Mitochondrion, 2009, 9: 180-185.
    • (2009) Mitochondrion , vol.9 , pp. 180-185
    • Wang, X.1    Yan, Q.2    Guan, M.X.3
  • 54
    • 0037178851 scopus 로고    scopus 로고
    • Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of the deafness-associated mitochondrial 12S rRNA A1555G mutation
    • Li X, Li R, Lin X, et al. Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of the deafness-associated mitochondrial 12S rRNA A1555G mutation. J Biol Chem, 2002, 277:27256-27264.
    • (2002) J Biol Chem , vol.277 , pp. 27256-27264
    • Li, X.1    Li, R.2    Lin, X.3
  • 55
    • 0036837683 scopus 로고    scopus 로고
    • A human mitochondrial GTP binding protein related to tRNA modification may modulate the phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation
    • Li X, Guan MX. A human mitochondrial GTP binding protein related to tRNA modification may modulate the phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation. Mol Cell Biol, 2002, 22:7701-7711.
    • (2002) Mol Cell Biol , vol.22 , pp. 7701-7711
    • Li, X.1    Guan, M.X.2
  • 56
    • 23844437940 scopus 로고    scopus 로고
    • Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15S rRNA
    • Yan Q, Li X, Faye G, et al. Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15S rRNA. J Biol Chem, 2005, 280: 29151-29157.
    • (2005) J Biol Chem , vol.280 , pp. 29151-29157
    • Yan, Q.1    Li, X.2    Faye, G.3


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