메뉴 건너뛰기




Volumn 1757, Issue 9-10, 2006, Pages 1190-1198

Modeling human mitochondrial diseases in flies

Author keywords

Drosophila; Gene targeting; Mitochondria; Mitochondrial diseases; Oxidative phosphorylation

Indexed keywords

DOUBLE STRANDED DNA; FRATAXIN; MITOCHONDRIAL DNA; PROSTAGLANDIN SYNTHASE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; TRANSFER RNA;

EID: 33748985452     PISSN: 00052728     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbabio.2006.05.008     Document Type: Review
Times cited : (26)

References (66)
  • 1
    • 0034708613 scopus 로고    scopus 로고
    • A brief history of Drosophila's contributions to genome research
    • Rubin G.M., and Lewis E.B. A brief history of Drosophila's contributions to genome research. Science 287 (2000) 2216-2218
    • (2000) Science , vol.287 , pp. 2216-2218
    • Rubin, G.M.1    Lewis, E.B.2
  • 2
    • 33748962305 scopus 로고    scopus 로고
    • M.A. Fernández-Moreno, C.L. Farr, L.S. Kaguni, R. Garesse. Drosophila melanogaster as a Model System to Study Mitochondrial Function, in Methods in Molecular Biology, Humana Press Inc, Totowa, NJ. (in press).
  • 4
    • 0019945644 scopus 로고
    • Genetic transformation of Drosophila with transposable element vectors
    • Rubin G.M., and Spradling A.C. Genetic transformation of Drosophila with transposable element vectors. Science 218 (1982) 348-353
    • (1982) Science , vol.218 , pp. 348-353
    • Rubin, G.M.1    Spradling, A.C.2
  • 5
    • 0027160708 scopus 로고
    • Targeted gene expression as a means of altering cell fates and generating dominant phenotypes
    • Brand A.H., and Perrimon N. Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Development 118 (1993) 401-415
    • (1993) Development , vol.118 , pp. 401-415
    • Brand, A.H.1    Perrimon, N.2
  • 6
    • 14344263852 scopus 로고    scopus 로고
    • Emerging technologies for gene manipulation in Drosophila melanogaster
    • (Erratum in: Nat. Rev. Genet. 6 (2005)340)
    • Venken K.J., and Bellen H.J. Emerging technologies for gene manipulation in Drosophila melanogaster. Nat. Rev. Genet. 6 (2005) 167-178 (Erratum in: Nat. Rev. Genet. 6 (2005)340)
    • (2005) Nat. Rev. Genet. , vol.6 , pp. 167-178
    • Venken, K.J.1    Bellen, H.J.2
  • 7
    • 29444455075 scopus 로고    scopus 로고
    • Drosophila as a model for human neurodegenerative disease
    • Bilen J., and Bonini N.M. Drosophila as a model for human neurodegenerative disease. Annu. Rev. Genet. 39 (2005) 153-171
    • (2005) Annu. Rev. Genet. , vol.39 , pp. 153-171
    • Bilen, J.1    Bonini, N.M.2
  • 8
    • 0035941492 scopus 로고    scopus 로고
    • Animal mitochondrial biogenesis and function: a regulatory cross-talk between two genomes
    • Garesse R., and Vallejo C.G. Animal mitochondrial biogenesis and function: a regulatory cross-talk between two genomes. Gene 263 (2001) 1-16
    • (2001) Gene , vol.263 , pp. 1-16
    • Garesse, R.1    Vallejo, C.G.2
  • 9
    • 0037036115 scopus 로고    scopus 로고
    • Nuclear activators and coactivators in mammalian mitochondrial biogenesis
    • Scarpulla R.C. Nuclear activators and coactivators in mammalian mitochondrial biogenesis. Biochim. Biophys. Acta 1576 (2002) 1-14
    • (2002) Biochim. Biophys. Acta , vol.1576 , pp. 1-14
    • Scarpulla, R.C.1
  • 10
    • 33645011201 scopus 로고    scopus 로고
    • Nuclear control of respiratory gene expression in mammalian cells
    • Scarpulla R.C. Nuclear control of respiratory gene expression in mammalian cells. J. Cell. Biochem. 97 (2006) 673-683
    • (2006) J. Cell. Biochem. , vol.97 , pp. 673-683
    • Scarpulla, R.C.1
  • 11
    • 0027240848 scopus 로고
    • The Drosophila erect wing gene, which is important for both neuronal and muscle development, encodes a protein which is similar to the sea urchin P3A2 DNA binding protein
    • DeSimone S.M., and White K. The Drosophila erect wing gene, which is important for both neuronal and muscle development, encodes a protein which is similar to the sea urchin P3A2 DNA binding protein. Mol. Cell. Biol. 13 (1993) 3641-3649
    • (1993) Mol. Cell. Biol. , vol.13 , pp. 3641-3649
    • DeSimone, S.M.1    White, K.2
  • 12
    • 25144455938 scopus 로고    scopus 로고
    • A Drosophila model of mitochondrial DNA replication: proteins, genes and regulation
    • Garesse R., and Kaguni L.S. A Drosophila model of mitochondrial DNA replication: proteins, genes and regulation. IUBMB Life 57 (2005) 555-561
    • (2005) IUBMB Life , vol.57 , pp. 555-561
    • Garesse, R.1    Kaguni, L.S.2
  • 13
    • 0034210982 scopus 로고    scopus 로고
    • The highly compact structure of the mitochondrial DNA polymerase genomic region of Drosophila melanogaster: functional and evolutionary implications
    • Lefai E., Fernandez-Moreno M.A., Kaguni L.S., and Garesse R. The highly compact structure of the mitochondrial DNA polymerase genomic region of Drosophila melanogaster: functional and evolutionary implications. Insect Mol. Biol. 9 (2000) 315-322
    • (2000) Insect Mol. Biol. , vol.9 , pp. 315-322
    • Lefai, E.1    Fernandez-Moreno, M.A.2    Kaguni, L.S.3    Garesse, R.4
  • 14
    • 0034608014 scopus 로고    scopus 로고
    • Regulation of mitochondrial single-stranded DNA-binding protein gene expression links nuclear and mitochondrial DNA replication in Drosophila
    • Ruiz de Mena I., Lefai E., Garesse R., and Kaguni L.S. Regulation of mitochondrial single-stranded DNA-binding protein gene expression links nuclear and mitochondrial DNA replication in Drosophila. J. Biol. Chem. 275 (2000) 13628-13636
    • (2000) J. Biol. Chem. , vol.275 , pp. 13628-13636
    • Ruiz de Mena, I.1    Lefai, E.2    Garesse, R.3    Kaguni, L.S.4
  • 16
    • 20444458289 scopus 로고    scopus 로고
    • Drosophila transcription factor B1 modulates mitochondrial translation but not transcription or DNA copy number in Schneider cells
    • Matsushima Y., Adán C., Garesse R., and Kaguni L.S. Drosophila transcription factor B1 modulates mitochondrial translation but not transcription or DNA copy number in Schneider cells. J. Biol. Chem. 280 (2005) 16815-16820
    • (2005) J. Biol. Chem. , vol.280 , pp. 16815-16820
    • Matsushima, Y.1    Adán, C.2    Garesse, R.3    Kaguni, L.S.4
  • 17
    • 3042695377 scopus 로고    scopus 로고
    • Drosophila transcription factor B2 regulates mitochondrial DNA copy number and transcription in Schneider cells
    • Matsushima Y., Garesse R., and Kaguni L.S. Drosophila transcription factor B2 regulates mitochondrial DNA copy number and transcription in Schneider cells. J. Biol. Chem. 279 (2004) 26900-26905
    • (2004) J. Biol. Chem. , vol.279 , pp. 26900-26905
    • Matsushima, Y.1    Garesse, R.2    Kaguni, L.S.3
  • 20
    • 0344740979 scopus 로고    scopus 로고
    • Bonsai, a ribosomal protein S15 homolog, involved in gut mitochondrial activity and systemic growth
    • Galloni M. Bonsai, a ribosomal protein S15 homolog, involved in gut mitochondrial activity and systemic growth. Dev. Biol. 264 (2003) 482-494
    • (2003) Dev. Biol. , vol.264 , pp. 482-494
    • Galloni, M.1
  • 21
    • 0346155806 scopus 로고    scopus 로고
    • Genetics of aging in the fruit fly, Drosophila melanogaster
    • Helfand S.L., and Rogina B. Genetics of aging in the fruit fly, Drosophila melanogaster. Annu. Rev. Genet. 37 (2003) 329-348
    • (2003) Annu. Rev. Genet. , vol.37 , pp. 329-348
    • Helfand, S.L.1    Rogina, B.2
  • 22
    • 26044455925 scopus 로고    scopus 로고
    • Drosophila melanogaster: a model for the study of DNA damage checkpoint response
    • Song Y.H. Drosophila melanogaster: a model for the study of DNA damage checkpoint response. Mol. Cell 19 (2005) 67-179
    • (2005) Mol. Cell , vol.19 , pp. 67-179
    • Song, Y.H.1
  • 23
    • 17344369490 scopus 로고    scopus 로고
    • Mechanisms of translational regulation in Drosophila
    • Wilhelm J.E., and Smibert C.A. Mechanisms of translational regulation in Drosophila. Biol. Cell 97 (2005) 235-252
    • (2005) Biol. Cell , vol.97 , pp. 235-252
    • Wilhelm, J.E.1    Smibert, C.A.2
  • 24
    • 29044447864 scopus 로고    scopus 로고
    • Signalling via cGMP: Lessons from Drosophila
    • Davies S.A. Signalling via cGMP: Lessons from Drosophila. Cell. Signal. 18 (2006) 409-421
    • (2006) Cell. Signal. , vol.18 , pp. 409-421
    • Davies, S.A.1
  • 25
    • 0038381618 scopus 로고    scopus 로고
    • Understanding the molecular responses to hypoxia using Drosophila as a genetic model
    • Farahani R., and Haddad C.G. Understanding the molecular responses to hypoxia using Drosophila as a genetic model. Respir. Physiol. Neurobiol. 135 (2003) 221-229
    • (2003) Respir. Physiol. Neurobiol. , vol.135 , pp. 221-229
    • Farahani, R.1    Haddad, C.G.2
  • 26
    • 17044394194 scopus 로고    scopus 로고
    • Olfactory memory formation in Drosophila: from molecular to systems neuroscience
    • Davis R.L. Olfactory memory formation in Drosophila: from molecular to systems neuroscience. Annu. Rev. Neurosci. 28 (2005) 275-302
    • (2005) Annu. Rev. Neurosci. , vol.28 , pp. 275-302
    • Davis, R.L.1
  • 27
    • 24044444531 scopus 로고    scopus 로고
    • The circadian timekeeping system of Drosophila
    • Hardin P.E. The circadian timekeeping system of Drosophila. Curr. Biol. 15 (2005) 714-722
    • (2005) Curr. Biol. , vol.15 , pp. 714-722
    • Hardin, P.E.1
  • 28
    • 17844406856 scopus 로고    scopus 로고
    • Alpha-synuclein phosphorylation controls neurotoxicity and inclusion formation in a Drosophila model of Parkinson disease
    • Chen L., and Feany M.B. Alpha-synuclein phosphorylation controls neurotoxicity and inclusion formation in a Drosophila model of Parkinson disease. Nat. Neurosci. 8 (2005) 657-663
    • (2005) Nat. Neurosci. , vol.8 , pp. 657-663
    • Chen, L.1    Feany, M.B.2
  • 29
    • 2942642816 scopus 로고    scopus 로고
    • Drosophila invasive tumors: a model for understanding metastasis
    • Woodhouse E.C., and Liotta L.A. Drosophila invasive tumors: a model for understanding metastasis. Cell Cycle 3 (2004) 38-40
    • (2004) Cell Cycle , vol.3 , pp. 38-40
    • Woodhouse, E.C.1    Liotta, L.A.2
  • 31
    • 20444407260 scopus 로고    scopus 로고
    • Drosophila as a novel animal model for studying the genetics of age-related memory impairment, (16) Rev
    • Saitoe M., Horiuchi J., Tamura T., and Ito N. Drosophila as a novel animal model for studying the genetics of age-related memory impairment, (16) Rev. Neuroscience (2005) 137-149
    • (2005) Neuroscience , pp. 137-149
    • Saitoe, M.1    Horiuchi, J.2    Tamura, T.3    Ito, N.4
  • 34
    • 33645052713 scopus 로고    scopus 로고
    • Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders
    • Smeitink J.A., Zeviani M., Turnbull D.M., and Jacobs H.T. Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. Cell Metab. 3 (2006) 9-13
    • (2006) Cell Metab. , vol.3 , pp. 9-13
    • Smeitink, J.A.1    Zeviani, M.2    Turnbull, D.M.3    Jacobs, H.T.4
  • 35
    • 23644436319 scopus 로고    scopus 로고
    • Disorders of nuclear-mitochondrial intergenomic signalling
    • Spinazzola A., and Zeviani M. Disorders of nuclear-mitochondrial intergenomic signalling. Gene 354 (2005) 16-18
    • (2005) Gene , vol.354 , pp. 16-18
    • Spinazzola, A.1    Zeviani, M.2
  • 37
    • 0033652821 scopus 로고    scopus 로고
    • Overexpression of the catalytic subunit of DNA polymerase γ results in depletion of mitochondrial DNA in Drosophila melanogaster
    • Lefai E., Calleja M., Ruiz de Mena I., Lagina III A.T., Kaguni L.S., and Garesse R. Overexpression of the catalytic subunit of DNA polymerase γ results in depletion of mitochondrial DNA in Drosophila melanogaster. Mol. Gen. Genet. 264 (2000) 37-46
    • (2000) Mol. Gen. Genet. , vol.264 , pp. 37-46
    • Lefai, E.1    Calleja, M.2    Ruiz de Mena, I.3    Lagina III, A.T.4    Kaguni, L.S.5    Garesse, R.6
  • 40
    • 0037972522 scopus 로고    scopus 로고
    • Mitochondrial respiratory chain diseases
    • DiMauro S., and Schon E.A. Mitochondrial respiratory chain diseases. N. Engl. J. Med. 348 (2003) 2656-2658
    • (2003) N. Engl. J. Med. , vol.348 , pp. 2656-2658
    • DiMauro, S.1    Schon, E.A.2
  • 47
    • 0036838823 scopus 로고    scopus 로고
    • Frataxin deficiency and mitochondrial dysfunction
    • Pandolfo M. Frataxin deficiency and mitochondrial dysfunction. Mitochondrion 2 (2002) 87-93
    • (2002) Mitochondrion , vol.2 , pp. 87-93
    • Pandolfo, M.1
  • 49
    • 0019947366 scopus 로고
    • Control of muscle and neuronal differentiation in a cultured embryonal carcinoma cell line
    • McBurney M., Jones-Villeneuve W.E.M., Edwards M.K., and Anderson P.J. Control of muscle and neuronal differentiation in a cultured embryonal carcinoma cell line. Nature 299 (1982) 165-167
    • (1982) Nature , vol.299 , pp. 165-167
    • McBurney, M.1    Jones-Villeneuve, W.E.M.2    Edwards, M.K.3    Anderson, P.J.4
  • 51
    • 0035138072 scopus 로고    scopus 로고
    • Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
    • Puccio H., Simon D., Cossee M., Criqui-Filipe P., Tiziano F., Melki J., Hindelang C., Matyas R., Rustin P., and Koenig M. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat. Genet. 27 (2001) 181-186
    • (2001) Nat. Genet. , vol.27 , pp. 181-186
    • Puccio, H.1    Simon, D.2    Cossee, M.3    Criqui-Filipe, P.4    Tiziano, F.5    Melki, J.6    Hindelang, C.7    Matyas, R.8    Rustin, P.9    Koenig, M.10
  • 52
    • 27944495710 scopus 로고    scopus 로고
    • RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila
    • Anderson P.R., Kirby K., Hilliker A.J., and Phillips J.P. RNAi-mediated suppression of the mitochondrial iron chaperone, frataxin, in Drosophila. Hum. Mol. Genet. 14 (2005) 3397-3405
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 3397-3405
    • Anderson, P.R.1    Kirby, K.2    Hilliker, A.J.3    Phillips, J.P.4
  • 55
    • 0034674713 scopus 로고    scopus 로고
    • Gene targeting by homologous recombination in Drosophila
    • Rong Y.S., and Golic K.G. Gene targeting by homologous recombination in Drosophila. Science 288 (2000) 2013-2018
    • (2000) Science , vol.288 , pp. 2013-2018
    • Rong, Y.S.1    Golic, K.G.2
  • 56
    • 3242804553 scopus 로고    scopus 로고
    • Genome manipulation by homologous recombination in Drosophila
    • Bi X., and Rong Y.S. Genome manipulation by homologous recombination in Drosophila. Briefings in Functional Genomics and Proteomics vol. 2 (2003) 142-146
    • (2003) Briefings in Functional Genomics and Proteomics , vol.2 , pp. 142-146
    • Bi, X.1    Rong, Y.S.2
  • 58
    • 0037418177 scopus 로고    scopus 로고
    • Ends-out, or replacement, gene targeting in Drosophila
    • Gong W.J., and Golic K.G. Ends-out, or replacement, gene targeting in Drosophila. Proc. Natl. Acad. Sci. U.S.A. 100 (2003) 2556-2561
    • (2003) Proc. Natl. Acad. Sci. U.S.A. , vol.100 , pp. 2556-2561
    • Gong, W.J.1    Golic, K.G.2
  • 60
    • 23944456723 scopus 로고    scopus 로고
    • Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome
    • Luoma P.T., Luo N., Loscher W.N., Farr C.L., Horvath R., Wanschitz J., Kiechl S., Kaguni L.S., and Suomalainen A. Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. Hum. Mol. Genet. 14 (2005) 1907-1920
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 1907-1920
    • Luoma, P.T.1    Luo, N.2    Loscher, W.N.3    Farr, C.L.4    Horvath, R.5    Wanschitz, J.6    Kiechl, S.7    Kaguni, L.S.8    Suomalainen, A.9
  • 61
    • 24744464580 scopus 로고    scopus 로고
    • The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit
    • Chan S.S., Longley M.J., and Copeland W.C. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. J. Biol. Chem. 280 (2005) 31341-31346
    • (2005) J. Biol. Chem. , vol.280 , pp. 31341-31346
    • Chan, S.S.1    Longley, M.J.2    Copeland, W.C.3
  • 62
    • 0037013234 scopus 로고    scopus 로고
    • Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis
    • Ponamarev M.V., Longley M.J., Nguyen D., Kunkel T.A., and Copeland W.C. Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis. J. Biol. Chem. 277 (2002) 15225-15228
    • (2002) J. Biol. Chem. , vol.277 , pp. 15225-15228
    • Ponamarev, M.V.1    Longley, M.J.2    Nguyen, D.3    Kunkel, T.A.4    Copeland, W.C.5
  • 63
    • 3543039417 scopus 로고    scopus 로고
    • Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia
    • Graziewicz M.A., Longley M.J., Bienstock R.J., Zeviani M., and Copeland W.C. Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Nat. Struct. Mol. Biol. 11 (2004) 770-776
    • (2004) Nat. Struct. Mol. Biol. , vol.11 , pp. 770-776
    • Graziewicz, M.A.1    Longley, M.J.2    Bienstock, R.J.3    Zeviani, M.4    Copeland, W.C.5
  • 64
    • 13244270083 scopus 로고    scopus 로고
    • Mutations in the spacer region of Drosophila mitochondrial DNA polymerase affect DNA binding, processivity, and the balance between Pol and Exo function
    • Luo N., and Kaguni L.S. Mutations in the spacer region of Drosophila mitochondrial DNA polymerase affect DNA binding, processivity, and the balance between Pol and Exo function. J. Biol. Chem. 280 (2005) 2491-2497
    • (2005) J. Biol. Chem. , vol.280 , pp. 2491-2497
    • Luo, N.1    Kaguni, L.S.2
  • 65
    • 0034693067 scopus 로고    scopus 로고
    • The expression of the catalytic and accessory subunits of the mitochondrial DNA polymerase are differentially regulated in Drosophila melanogaster
    • Lefai E., Fernández-Moreno M.A., Alahari A., Kaguni L.S., and Garesse R. The expression of the catalytic and accessory subunits of the mitochondrial DNA polymerase are differentially regulated in Drosophila melanogaster. J. Biol. Chem. 275 (2000) 33123-33133
    • (2000) J. Biol. Chem. , vol.275 , pp. 33123-33133
    • Lefai, E.1    Fernández-Moreno, M.A.2    Alahari, A.3    Kaguni, L.S.4    Garesse, R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.