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Volumn 361, Issue 1, 2007, Pages 133-139

Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss

Author keywords

Aminoglycoside ototoxicity; Chinese; Hearing loss; Mitochondrial DNA; Mutation; Penetrance; tRNASer(UCN)

Indexed keywords

AMINOGLYCOSIDE; SERINE; TRANSFER RNA; RNA; RNA, MITOCHONDRIAL; SERINE TRANSFER RNA; UNCLASSIFIED DRUG;

EID: 34547134236     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2007.06.171     Document Type: Article
Times cited : (36)

References (37)
  • 1
    • 1842678661 scopus 로고    scopus 로고
    • Molecular pathogenetic mechanism of maternally inherited deafness
    • Guan M.X. Molecular pathogenetic mechanism of maternally inherited deafness. Ann. NY Acad. Sci. 1011 (2004) 259-271
    • (2004) Ann. NY Acad. Sci. , vol.1011 , pp. 259-271
    • Guan, M.X.1
  • 2
    • 0033058511 scopus 로고    scopus 로고
    • Mitochondrial deafness mutations reviewed
    • Fischel-Ghodsian N. Mitochondrial deafness mutations reviewed. Hum. Mutat. 13 (1999) 261-270
    • (1999) Hum. Mutat. , vol.13 , pp. 261-270
    • Fischel-Ghodsian, N.1
  • 3
    • 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
    • Zhao H., Li R., Wang Q., Yan Q., Deng J.H., Han D., Bai Y., Young W.Y., and Guan M.X. 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. 74 (2004) 139-152
    • (2004) Am. J. Hum. Genet. , vol.74 , 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
  • 4
    • 20044362198 scopus 로고    scopus 로고
    • Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and nonsyndromic hearing loss
    • Zhao H., Young W.Y., Yan Q., Li R., Cao J., Wang Q., Li X., Peters J.L., Han D., and Guan M.X. Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and nonsyndromic hearing loss. Nucleic Acids Res. 33 (2005) 1132-1139
    • (2005) Nucleic Acids Res. , vol.33 , 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
  • 7
    • 0029916599 scopus 로고    scopus 로고
    • Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree
    • Matthijs G., Claes S., Longo-Bbenza B., and Cassiman J.-J. Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree. Eur. J. Hum. Genet. 4 (1996) 46-51
    • (1996) Eur. J. Hum. Genet. , vol.4 , pp. 46-51
    • Matthijs, G.1    Claes, S.2    Longo-Bbenza, B.3    Cassiman, J.-J.4
  • 9
    • 0344167734 scopus 로고    scopus 로고
    • Cosegregation of C-insertion at position 961 with A1555G mutation of mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss
    • Li R., Xing G., Yan M., Cao X., Liu X.Z., Bu X., and Guan M.X. Cosegregation of C-insertion at position 961 with A1555G mutation of mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss. Am. J. Med. Genet. 124A (2004) 113-117
    • (2004) Am. J. Med. Genet. , vol.124 A , pp. 113-117
    • Li, R.1    Xing, G.2    Yan, M.3    Cao, X.4    Liu, X.Z.5    Bu, X.6    Guan, M.X.7
  • 12
    • 0028288558 scopus 로고
    • A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
    • Reid R.M., Vernham G.A., and Jacobs H.T. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum. Mutat. 3 (1994) 243-247
    • (1994) Hum. Mutat. , vol.3 , pp. 243-247
    • Reid, R.M.1    Vernham, G.A.2    Jacobs, H.T.3
  • 21
    • 0032697467 scopus 로고    scopus 로고
    • Molecular phenotype of the np7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids
    • Toompuu M., Tiranti V., Zeviani M., and Jacobs H.T. Molecular phenotype of the np7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids. Hum. Mol. Genet. 8 (1999) 2275-2283
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 2275-2283
    • Toompuu, M.1    Tiranti, V.2    Zeviani, M.3    Jacobs, H.T.4
  • 22
    • 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., Fischel-Ghodsian N., and Attardi G. Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 5 (1996) 963-971
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 963-971
    • Guan, M.X.1    Fischel-Ghodsian, N.2    Attardi, G.3
  • 23
    • 0035869153 scopus 로고    scopus 로고
    • Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation
    • Guan M.X., Fischel-Ghodsian N., and Attardi G. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 10 (2001) 573-580
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 573-580
    • Guan, M.X.1    Fischel-Ghodsian, N.2    Attardi, G.3
  • 24
    • 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
    • Li Z., Li R., Chen J., Liao Z., Zhu Y., Qian Y., Xiong S., Heman-Ackah S., Wu J., Choo D.I., and Guan M.-X. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside induced and non-syndromic hearing loss. Hum. Genet. 117 (2005) 9-15
    • (2005) Hum. Genet. , vol.117 , 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
  • 26
    • 33749463802 scopus 로고    scopus 로고
    • Thr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss
    • Thr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss. Am. J. Med. Genet. A 140 (2006) 2188-2197
    • (2006) Am. J. Med. Genet. A , vol.140 , pp. 2188-2197
    • Young, W.Y.1    Zhao, L.2    Qian, Y.3    Li, R.4    Chen, J.5    Dai, P.6    Zhai, S.7    Han, D.8    Guan, M.X.9
  • 28
    • 13744258058 scopus 로고    scopus 로고
    • Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation
    • Young W.Y., Zhao L., Li R., Wang Q., Qian Y., Li N., Greinwald J.H., and Guan M.X. Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. Biochem. Biophys. Res. Commun. 328 (2005) 1244-1251
    • (2005) Biochem. Biophys. Res. Commun. , vol.328 , pp. 1244-1251
    • Young, W.Y.1    Zhao, L.2    Li, R.3    Wang, Q.4    Qian, Y.5    Li, N.6    Greinwald, J.H.7    Guan, M.X.8
  • 30
    • 25144464065 scopus 로고    scopus 로고
    • Clinical evaluation and mitochondrial genome sequence analysis of two Chinese families with aminoglycoside-induced and nonsyndromic hearing loss
    • Zhao L., Wang Q., Qian Y., Li R., Cao J., Hart L.C., Zhai S., Han D., Young W.Y., and Guan M.X. Clinical evaluation and mitochondrial genome sequence analysis of two Chinese families with aminoglycoside-induced and nonsyndromic hearing loss. Biochem. Biophys. Res. Commun. 336 (2005) 967-973
    • (2005) Biochem. Biophys. Res. Commun. , vol.336 , pp. 967-973
    • Zhao, L.1    Wang, Q.2    Qian, Y.3    Li, R.4    Cao, J.5    Hart, L.C.6    Zhai, S.7    Han, D.8    Young, W.Y.9    Guan, M.X.10
  • 32
    • 0032519307 scopus 로고
    • Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome
    • Rieder M.J., Taylor S.L., Tobe V.O., and Nickerson D.A. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Res. 26 (1981) 967-973
    • (1981) Nucleic Acids Res. , vol.26 , pp. 967-973
    • Rieder, M.J.1    Taylor, S.L.2    Tobe, V.O.3    Nickerson, D.A.4
  • 34
    • 0028788493 scopus 로고
    • Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations
    • Brown M.D., Torroni A., Reckord C.L., and Wallace D.C. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. Hum. Mutat. 6 (1995) 311-325
    • (1995) Hum. Mutat. , vol.6 , pp. 311-325
    • Brown, M.D.1    Torroni, A.2    Reckord, C.L.3    Wallace, D.C.4
  • 35
    • 6044249065 scopus 로고    scopus 로고
    • Mitochondrial tRNA 3′ end metabolism and human disease
    • Levinger L., Morl M., and Florentz C. Mitochondrial tRNA 3′ end metabolism and human disease. Nucleic Acids Res. 32 (2004) 5430-5441
    • (2004) Nucleic Acids Res. , vol.32 , pp. 5430-5441
    • Levinger, L.1    Morl, M.2    Florentz, C.3
  • 36
    • 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., Rovio A., Holt I.J., and Jacobs H.T. Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation. Hum. Mol. Genet. 6 (1997) 434-449
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 434-449
    • Reid, F.M.1    Rovio, A.2    Holt, I.J.3    Jacobs, H.T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.