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Volumn 29, Issue 15, 2020, Pages

The determination of complete human mitochondrial DNA sequences in single cells: Implications for the study of somatic mitochondrial DNA point mutations

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; CELL EXTRACT; CYCLOOXYGENASE 2; ISOENZYME; MEMBRANE PROTEIN; PROSTAGLANDIN SYNTHASE; PTGS2 PROTEIN, HUMAN;

EID: 0035432034     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/29.15.e74     Document Type: Article
Times cited : (151)

References (39)
  • 2
    • 0026016180 scopus 로고
    • Nuclear gadgets in mitochondrial DNA replication and transcription
    • Clayton, D.A. (1991) Nuclear gadgets in mitochondrial DNA replication and transcription. Trends Biochem. Sci., 16, 107-111.
    • (1991) Trends Biochem. Sci , vol.16 , pp. 107-111
    • Clayton, D.A.1
  • 4
    • 0030670573 scopus 로고    scopus 로고
    • Clinical features, investigation and management of patients with defects of mitochondrial DNA
    • Chinnery, P.F. and Turnbull, D.M. (1997) Clinical features, investigation and management of patients with defects of mitochondrial DNA. J. Neurol. Neurosurg. Psychiatry, 63, 559-563.
    • (1997) J. Neurol. Neurosurg. Psychiatry , vol.63 , pp. 559-563
    • Chinnery, P.F.1    Turnbull, D.M.2
  • 5
    • 0030664064 scopus 로고    scopus 로고
    • Mammalian mitochondrial genetics: heredity, heteroplasmy and disease
    • Lightowlers, R.N., Chinnery, P.F., Turnbull, D.M. and Howell, N. (1997) Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. Trends Genet., 13, 450-455.
    • (1997) Trends Genet , vol.13 , pp. 450-455
    • Lightowlers, R.N.1    Chinnery, P.F.2    Turnbull, D.M.3    Howell, N.4
  • 6
    • 0026608057 scopus 로고
    • MELAS mutation in mtDNA binding site for transcription termination factor causes defect in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts
    • Chomyn, A., Martinuzzi, A., Yoneda, M., Daga, A., Hurko, O., Johns, D., Lai, S.T., Nonaka, I., Angelini, C. and Attardi, G. (1992) MELAS mutation in mtDNA binding site for transcription termination factor causes defect in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc. Natl Acad. Sci. USA, 89, 4221-4225.
    • (1992) Proc. Natl Acad. Sci. USA , vol.89 , pp. 4221-4225
    • Chomyn, A.1    Martinuzzi, A.2    Yoneda, M.3    Daga, A.4    Hurko, O.5    Johns, D.6    Lai, S.T.7    Nonaka, I.8    Angelini, C.9    Attardi, G.10
  • 7
    • 0029003333 scopus 로고
    • Complementation and segregation behavior of disease causing mitochondrial DNA mutations in cellular model systems
    • Attardi, G., Yoneda, M. and Chomyn, A. (1995) Complementation and segregation behavior of disease causing mitochondrial DNA mutations in cellular model systems. Biochim. Biophys. Acta, 1271, 241-248.
    • (1995) Biochim. Biophys. Acta , vol.1271 , pp. 241-248
    • Attardi, G.1    Yoneda, M.2    Chomyn, A.3
  • 8
    • 0026621445 scopus 로고
    • Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)
    • Boulet, L., Karpati, G. and Shoubridge, E.A. (1992) Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am. J. Hum. Genet., 51, 1187-1200.
    • (1992) Am. J. Hum. Genet , vol.51 , pp. 1187-1200
    • Boulet, L.1    Karpati, G.2    Shoubridge, E.A.3
  • 9
    • 0023811053 scopus 로고
    • Normal oxidative damage to mitochondrial and nuclear DNA is extensive
    • Richter, C., Park, J.W. and Ames, B. (1988) Normal oxidative damage to mitochondrial and nuclear DNA is extensive. Proc. Natl Acad. Sci. USA, 85, 6465-6467.
    • (1988) Proc. Natl Acad. Sci. USA , vol.85 , pp. 6465-6467
    • Richter, C.1    Park, J.W.2    Ames, B.3
  • 11
    • 0025674177 scopus 로고
    • Detection of a specific mitochondrial DNA deletion in tissues of older humans
    • Cortopassi, G.A. and Arnheim, N. (1990) Detection of a specific mitochondrial DNA deletion in tissues of older humans. Nucleic Acids Res., 18, 6927-6933.
    • (1990) Nucleic Acids Res , vol.18 , pp. 6927-6933
    • Cortopassi, G.A.1    Arnheim, N.2
  • 12
    • 0027017232 scopus 로고
    • Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age
    • Corral-Debrinski, M., Horton, T., Lott, M.T., Shoffner, J.M., Beal, M.F. and Wallace, D.C. (1992) Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age. Nature Genet., 2, 324-329.
    • (1992) Nature Genet , vol.2 , pp. 324-329
    • Corral-Debrinski, M.1    Horton, T.2    Lott, M.T.3    Shoffner, J.M.4    Beal, M.F.5    Wallace, D.C.6
  • 13
    • 0031885843 scopus 로고    scopus 로고
    • Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle
    • Brierley, E.J., Johnson, M.A., Lightowlers, R.N., James, O.F.W. and Turnbull, D.M. (1998) Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle. Ann. Neurol., 43, 217-223.
    • (1998) Ann. Neurol , vol.43 , pp. 217-223
    • Brierley, E.J.1    Johnson, M.A.2    Lightowlers, R.N.3    James, O.F.W.4    Turnbull, D.M.5
  • 14
    • 0035160315 scopus 로고    scopus 로고
    • Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues
    • Bodyak, N.D., Nekhaeva, E., Wei, J.Y. and Khrapko, K. (2001) Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues. Hum. Mol. Genet., 10, 17-24.
    • (2001) Hum. Mol. Genet , vol.10 , pp. 17-24
    • Bodyak, N.D.1    Nekhaeva, E.2    Wei, J.Y.3    Khrapko, K.4
  • 15
    • 0032745071 scopus 로고    scopus 로고
    • Mitochondrial enzyme activity in amyotrophic lateral sclerosis: implications for the role of mitochondria in neuronal cell death
    • Borthwick, G.M., Johnson, M.A., Ince, P.G., Shaw, P.J. and Turnbull D.M. (1999) Mitochondrial enzyme activity in amyotrophic lateral sclerosis: implications for the role of mitochondria in neuronal cell death. Ann. Neurol., 46, 787-790.
    • (1999) Ann. Neurol , vol.46 , pp. 787-790
    • Borthwick, G.M.1    Johnson, M.A.2    Ince, P.G.3    Shaw, P.J.4    Turnbull, D.M.5
  • 17
    • 0028140454 scopus 로고
    • Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from pateints with mitochondrial myopathy
    • Sciacco, M., Bonilla, E., Schon, E.A., Di Mauro, S. and Moraes, C.T. (1994) Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from pateints with mitochondrial myopathy. Hum. Mol. Genet., 3, 13-19.
    • (1994) Hum. Mol. Genet , vol.3 , pp. 13-19
    • Sciacco, M.1    Bonilla, E.2    Schon, E.A.3    Di Mauro, S.4    Moraes, C.T.5
  • 18
    • 0029834809 scopus 로고    scopus 로고
    • Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia
    • Moslemi, A.-R., Melberg, A., Holme, E. and Oldfors, A. (1996) Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. Ann. Neurol., 40, 707-713.
    • (1996) Ann. Neurol , vol.40 , pp. 707-713
    • Moslemi, A.-R.1    Melberg, A.2    Holme, E.3    Oldfors, A.4
  • 19
  • 22
    • 0024448458 scopus 로고
    • Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation
    • King, M.P. and Attardi, G. (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
  • 23
    • 0024459635 scopus 로고
    • Methods ofmicrophotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle
    • Old, S.L. and Johnson, M.A. (1989)Methods ofmicrophotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle. Histochem. J., 21, 545-556.
    • (1989) Histochem. J , vol.21 , pp. 545-556
    • Old, S.L.1    Johnson, M.A.2
  • 24
    • 0030826380 scopus 로고    scopus 로고
    • Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates
    • Zhou, L., Chomyn, A., Attardi, G. and Miller, C.A. (1997) Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates. J. Neurosci., 17, 7746-7753.
    • (1997) J. Neurosci , vol.17 , pp. 7746-7753
    • Zhou, L.1    Chomyn, A.2    Attardi, G.3    Miller, C.A.4
  • 25
    • 0031449003 scopus 로고    scopus 로고
    • Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes
    • Hirano, M., Shtilbans, A., Mayeux, R., Davidson, M., Di Mauro, S., Knowles, J.A. and Schon, E.A. (1997) Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes. Proc. Natl Acad. Sci. USA, 94, 14894-14899.
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 14894-14899
    • Hirano, M.1    Shtilbans, A.2    Mayeux, R.3    Davidson, M.4    Di Mauro, S.5    Knowles, J.A.6    Schon, E.A.7
  • 27
    • 0042845125 scopus 로고    scopus 로고
    • Center for Molecular Medicine, Emory University, Atlanta, GA, USA
    • MITOMAP: A Human Mitochondrial Genome Database. Center for Molecular Medicine, Emory University, Atlanta, GA, USA. http://www.gen.emory.edu/mitomap.html, 2001.
    • (2001) MITOMAP: A Human Mitochondrial Genome Database
  • 29
    • 0035258312 scopus 로고    scopus 로고
    • Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in Myoclonus Epilepsy and Ragged-Red Fibers (MERRF) syndrome by a multiplex Molecular Beacon based real-time fluorescence PCR
    • Szuhai, K., van den Ouweland, J.M., Dirks, R.W., Lemaitre, M., Truffert, J.-C., Janssen, G.M., Tanke, H.J., Holme, E., Maassen, J.A. and Raap, A.K. (2001) Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in Myoclonus Epilepsy and Ragged-Red Fibers (MERRF) syndrome by a multiplex Molecular Beacon based real-time fluorescence PCR. Nucleic Acids Res., 29, e13.
    • (2001) Nucleic Acids Res , vol.29 , pp. e13
    • Szuhai, K.1    van den Ouweland, J.M.2    Dirks, R.W.3    Lemaitre, M.4    Truffert, J.-C.5    Janssen, G.M.6    Tanke, H.J.7    Holme, E.8    Maassen, J.A.9    Raap, A.K.10
  • 30
    • 0033595684 scopus 로고    scopus 로고
    • Aging-dependent accumulation of point mutations in human mtDNA control region for replication
    • Michikawa, Y., Mazzucchelli, F., Bresolin, N., Scarlato, G. and Attardi, G. (1999) Aging-dependent accumulation of point mutations in human mtDNA control region for replication. Science, 286, 774-779.
    • (1999) Science , vol.286 , pp. 774-779
    • Michikawa, Y.1    Mazzucchelli, F.2    Bresolin, N.3    Scarlato, G.4    Attardi, G.5
  • 31
    • 0034327572 scopus 로고    scopus 로고
    • The age-related accumulation of a mitochondrial DNA control region mutation in muscle, but not brain, detected by a sensitive PNA-directed PCR clamping based method
    • Murdock, D.G., Christacos, N.C. andWallace, D.C. (2000) The age-related accumulation of a mitochondrial DNA control region mutation in muscle, but not brain, detected by a sensitive PNA-directed PCR clamping based method. Nucleic Acids Res., 28, 4350-4355.
    • (2000) Nucleic Acids Res , vol.28 , pp. 4350-4355
    • Murdock, D.G.1    Christacos, N.C.2    andWallace, D.C.3
  • 34
    • 0032707838 scopus 로고    scopus 로고
    • The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS
    • Pulkes, T., Eunson, L., Patterson, V., Siddiqui, A., Wood, N.W., Nelson, I.P., Morgan-Hughes, J.A. and Hanna, M.G. (1999) The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. Ann. Neurol., 46, 916-919.
    • (1999) Ann. Neurol , vol.46 , pp. 916-919
    • Pulkes, T.1    Eunson, L.2    Patterson, V.3    Siddiqui, A.4    Wood, N.W.5    Nelson, I.P.6    Morgan-Hughes, J.A.7    Hanna, M.G.8
  • 36
    • 0034955881 scopus 로고    scopus 로고
    • Progressive mitochondrial disease due to a novel missensemutation in themitochondrial DNA ND3 gene
    • Taylor, R.W., Singh-Kler, R., Hayes, C.M., Smith, P.E.M. and Turnbull, D.M. (2001) Progressive mitochondrial disease due to a novel missensemutation in themitochondrial DNA ND3 gene. Ann. Neurol., 50, 104-107.
    • (2001) Ann. Neurol , vol.50 , pp. 104-107
    • Taylor, R.W.1    Singh-Kler, R.2    Hayes, C.M.3    Smith, P.E.M.4    Turnbull, D.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.