메뉴 건너뛰기




Volumn 11, Issue 1, 2011, Pages 182-190

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

Author keywords

MIP1; Mitochondrial diseases; MtDNA mutability; POLG; ROS scavengers; Yeast model

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA;

EID: 78649984326     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2010.09.007     Document Type: Article
Times cited : (23)

References (36)
  • 1
    • 33749004245 scopus 로고    scopus 로고
    • Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans
    • Baruffini E., Lodi T., Dallabona C., Puglisi A., Zeviani M., Ferrero I. Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. Hum. Mol. Genet. 2006, 15:2846-2855.
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 2846-2855
    • Baruffini, E.1    Lodi, T.2    Dallabona, C.3    Puglisi, A.4    Zeviani, M.5    Ferrero, I.6
  • 2
    • 37049033589 scopus 로고    scopus 로고
    • Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human
    • Baruffini E., Ferrero I., Foury F. Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human. Biochim. Biophys. Acta 2007, 1772:1225-1235.
    • (2007) Biochim. Biophys. Acta , vol.1772 , pp. 1225-1235
    • Baruffini, E.1    Ferrero, I.2    Foury, F.3
  • 3
    • 84929297620 scopus 로고    scopus 로고
    • In vivo analysis of mtDNA replication defects in yeast
    • Baruffini E., Ferrero I., Foury F. In vivo analysis of mtDNA replication defects in yeast. Methods 2010, 51:426-436.
    • (2010) Methods , vol.51 , pp. 426-436
    • Baruffini, E.1    Ferrero, I.2    Foury, F.3
  • 4
    • 0025785410 scopus 로고
    • A family of low and high copy replicative, integrative and single-stranded S. cerevisiae/E. coli shuttle vectors
    • Bonneaud N., Ozier-Kalogeropoulos O., Li G.Y., Labouesse M., Minvielle-Sebastia L., Lacroute F. A family of low and high copy replicative, integrative and single-stranded S. cerevisiae/E. coli shuttle vectors. Yeast 1991, 7:609-615.
    • (1991) Yeast , vol.7 , pp. 609-615
    • Bonneaud, N.1    Ozier-Kalogeropoulos, O.2    Li, G.Y.3    Labouesse, M.4    Minvielle-Sebastia, L.5    Lacroute, F.6
  • 5
    • 0037423223 scopus 로고    scopus 로고
    • Survival of DNA damage in yeast directly depends on increased dNTP levels allowed by relaxed feedback inhibition of ribonucleotide reductase
    • Chabes A., Georgieva B., Domkin V., Zhao X., Rothstein R., Thelander L. Survival of DNA damage in yeast directly depends on increased dNTP levels allowed by relaxed feedback inhibition of ribonucleotide reductase. Cell 2003, 112:391-401.
    • (2003) Cell , vol.112 , pp. 391-401
    • Chabes, A.1    Georgieva, B.2    Domkin, V.3    Zhao, X.4    Rothstein, R.5    Thelander, L.6
  • 6
    • 33751384305 scopus 로고    scopus 로고
    • Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphism in mitochondrial disorders
    • Chan S.S., Longley M.J., Copeland W.C. Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphism in mitochondrial disorders. Hum. Mol. Genet. 2006, 15:3473-3483.
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 3473-3483
    • Chan, S.S.1    Longley, M.J.2    Copeland, W.C.3
  • 7
    • 0024367805 scopus 로고
    • A single nucleotide substitution at the rib2 locus of the yeast mitochondrial gene for 21S rRNA confers resistance to erythromycin and cold-sensitive ribosome assembly
    • Cui Z., Mason T.L. A single nucleotide substitution at the rib2 locus of the yeast mitochondrial gene for 21S rRNA confers resistance to erythromycin and cold-sensitive ribosome assembly. Curr. Genet. 1989, 16:273-279.
    • (1989) Curr. Genet. , vol.16 , pp. 273-279
    • Cui, Z.1    Mason, T.L.2
  • 9
    • 75749152961 scopus 로고    scopus 로고
    • Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using yeast models of OXPHOS deficiencies
    • Unit 19.5 63, 19.5.1-19.5.20
    • Fontanesi F., Diaz F., Barrientos A. Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using yeast models of OXPHOS deficiencies. Curr. Protoc. Hum. Genet. 2009, Unit 19.5 63, 19.5.1-19.5.20.
    • (2009) Curr. Protoc. Hum. Genet.
    • Fontanesi, F.1    Diaz, F.2    Barrientos, A.3
  • 10
    • 40949086824 scopus 로고    scopus 로고
    • Screens for mitochondrial mutants in yeast
    • Foury F. Screens for mitochondrial mutants in yeast. Meth. Mol. Biol. 2007, 372:167-176.
    • (2007) Meth. Mol. Biol. , vol.372 , pp. 167-176
    • Foury, F.1
  • 11
    • 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., Copeland W.C. Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Nat. Struct. Mol. Biol. 2004, 11:770-776.
    • (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
  • 12
    • 35548972018 scopus 로고    scopus 로고
    • The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7, 8-dihydro-8-oxo-2'-deoxyguanosine
    • Graziewicz M.A., Bienstock R.J., Copeland W.C. The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7, 8-dihydro-8-oxo-2'-deoxyguanosine. Hum. Mol. Genet. 2007, 16:2729-2739.
    • (2007) Hum. Mol. Genet. , vol.16 , pp. 2729-2739
    • Graziewicz, M.A.1    Bienstock, R.J.2    Copeland, W.C.3
  • 13
    • 20044362596 scopus 로고    scopus 로고
    • Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy
    • Hisama F.M., Mancuso M., Filosto M., DiMauro S. Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy. Am. J. Med. Genet. A 2005, 135:217-219.
    • (2005) Am. J. Med. Genet. A , vol.135 , pp. 217-219
    • Hisama, F.M.1    Mancuso, M.2    Filosto, M.3    DiMauro, S.4
  • 14
    • 0024520745 scopus 로고
    • Site-directed mutagenesis by overlap extension using the polymerase chain reaction
    • Ho S.N., Hunt H.D., Horton R.M., Pullen J.K., Pease L.R. Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 1989, 77:51-59.
    • (1989) Gene , vol.77 , pp. 51-59
    • Ho, S.N.1    Hunt, H.D.2    Horton, R.M.3    Pullen, J.K.4    Pease, L.R.5
  • 15
    • 0029025235 scopus 로고
    • Isolation and characterization of ten mutator alleles of the mitochondrial DNA polymerase-encoding MIP1 gene from Saccharomyces cerevisiae
    • Hu J.P., Vanderstraeten S., Foury F. Isolation and characterization of ten mutator alleles of the mitochondrial DNA polymerase-encoding MIP1 gene from Saccharomyces cerevisiae. Gene 1995, 160:105-110.
    • (1995) Gene , vol.160 , pp. 105-110
    • Hu, J.P.1    Vanderstraeten, S.2    Foury, F.3
  • 16
    • 67749104713 scopus 로고    scopus 로고
    • Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication
    • Kasiviswanathan R., Longley M.J., Chan S.S., Copeland W.C. Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication. J. Biol. Chem. 2009, 284:19501-19510.
    • (2009) J. Biol. Chem. , vol.284 , pp. 19501-19510
    • Kasiviswanathan, R.1    Longley, M.J.2    Chan, S.S.3    Copeland, W.C.4
  • 19
    • 0034603852 scopus 로고    scopus 로고
    • New features of mitochondrial DNA replication system in yeast and man
    • Lecrenier N., Foury F. New features of mitochondrial DNA replication system in yeast and man. Gene 2000, 246:37-48.
    • (2000) Gene , vol.246 , pp. 37-48
    • Lecrenier, N.1    Foury, F.2
  • 20
    • 70349807756 scopus 로고    scopus 로고
    • Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations
    • Lee Y.S., Kennedy W.D., Yin Y.W. Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations. Cell 2009, 139:312-324.
    • (2009) Cell , vol.139 , pp. 312-324
    • Lee, Y.S.1    Kennedy, W.D.2    Yin, Y.W.3
  • 24
    • 0017293210 scopus 로고
    • Localization in yeast mitochondrial DNA of mutations expressed in a deficiency of cytochrome oxidase and/or coenzyme QH2-cytochrome c reductase
    • Slonimski P.P., Tzagoloff A. Localization in yeast mitochondrial DNA of mutations expressed in a deficiency of cytochrome oxidase and/or coenzyme QH2-cytochrome c reductase. Eur. J. Biochem. 1976, 61:27-41.
    • (1976) Eur. J. Biochem. , vol.61 , pp. 27-41
    • Slonimski, P.P.1    Tzagoloff, A.2
  • 25
    • 0020480167 scopus 로고
    • Nature of an inserted sequence in the mitochondrial gene coding for the 15S ribosomal RNA of yeast
    • Sor F., Fukuhara H. Nature of an inserted sequence in the mitochondrial gene coding for the 15S ribosomal RNA of yeast. Nucleic Acids Res. 1982, 11:1625-1633.
    • (1982) Nucleic Acids Res. , vol.11 , pp. 1625-1633
    • Sor, F.1    Fukuhara, H.2
  • 26
    • 0021771507 scopus 로고
    • Erythromycin and spiramycin resistance mutations of yeast mitochondria: nature of the rib2 locus in the large ribosomal RNA gene
    • Sor F., Fukuhara H. Erythromycin and spiramycin resistance mutations of yeast mitochondria: nature of the rib2 locus in the large ribosomal RNA gene. Nucleic Acids Res. 1984, 12:8313-8318.
    • (1984) Nucleic Acids Res. , vol.12 , pp. 8313-8318
    • Sor, F.1    Fukuhara, H.2
  • 30
    • 31144476302 scopus 로고    scopus 로고
    • Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia
    • Stuart G.R., Santos J.H., Strand M.K., Van Houten B., Copeland W.C. Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. Hum. Mol. Genet. 2006, 15:363-374.
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 363-374
    • Stuart, G.R.1    Santos, J.H.2    Strand, M.K.3    Van Houten, B.4    Copeland, W.C.5
  • 31
    • 77953499335 scopus 로고    scopus 로고
    • Mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae
    • Stumpf J.D., Bailey C.M., Spell D., Stillwagon M., Anderson K.S., Copeland W.C. mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. Hum. Mol. Genet. 2010, 19:2123-2133.
    • (2010) Hum. Mol. Genet. , vol.19 , pp. 2123-2133
    • Stumpf, J.D.1    Bailey, C.M.2    Spell, D.3    Stillwagon, M.4    Anderson, K.S.5    Copeland, W.C.6
  • 32
    • 77956123004 scopus 로고    scopus 로고
    • A cluster of pathogenic mutations in the 3″-5″ exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation
    • Szczepanowska K., Foury F. A cluster of pathogenic mutations in the 3″-5″ exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation. Hum. Mol. Genet. 2010, 19:3516-3529.
    • (2010) Hum. Mol. Genet. , vol.19 , pp. 3516-3529
    • Szczepanowska, K.1    Foury, F.2
  • 34
    • 0032508665 scopus 로고    scopus 로고
    • The role of 3″-5″ exonucleolytic proofreading and mismatch repair in yeast mitochondrial DNA error avoidance
    • Vanderstraeten S., Van den Brûle S., Hu J., Foury F. The role of 3″-5″ exonucleolytic proofreading and mismatch repair in yeast mitochondrial DNA error avoidance. J. Biol. Chem. 1998, 273:23690-23697.
    • (1998) J. Biol. Chem. , vol.273 , pp. 23690-23697
    • Vanderstraeten, S.1    Van den Brûle, S.2    Hu, J.3    Foury, F.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.