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Original Articles

Deoxynucleoside Salvage Enzymes and Tissue Specific Mitochondrial DNA Depletion

Pages 370-381 | Published online: 11 Jun 2010

REFERENCES

  • Moraes , C. , Shanske , S. , Tritschler , H. , Aprille , J. , Andreetta , F. , Bonilla , E. , Schon , E. and DiMauro , S. 1991 . mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases . Am. J. Hum. Genet. , 48 : 492 – 501 .
  • Eriksson , S. and Wang , L. 2008 . Molecular mechanisms of mitochondrial DNA depletion diseases caused by deficiencies in enzymes in purine and pyrimidine metabolism . Nucleosides Nucleotides Nucleic Acids , 27 : 800 – 808 .
  • Zhou , X. , Solaroli , N. , Bjerke , M. , Stewart , J. , Rozell , B. , Johansson , M. and Karlsson , A. 2008 . Progressive loss of mitochondrial DNA in thymidine kinase 2 deficient mice . Hum. Mol. Genet. , 17 : 2329 – 2335 .
  • Akman , H. , Dorado , B. , López , L. , García-Cazorla , A. , Vilà , M. , Tanabe , L. , Dauer , W. , Bonilla , E. , Tanji , K. and Hirano , M. 2008 . Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance . Hum. Mol. Genet. , 17 : 2433 – 2440 .
  • Kimura , T. , Takeda , S. , Sagiya , Y. , Gotoh , M. , Nakamura , Y. and Arakawa , H. 2003 . Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools . Nat. Genet. , 34 : 440 – 445 .
  • Falkenberg , M. , Larsson , N. G. and Gustafsson , C. M. 2007 . DNA replication and tanscription in mammalian mitochondria . Annu. Rev. Biochem. , 76 : 679 – 699 .
  • Tyynismaa , H. , Sembongi , H. , Bokori-Brown , M. , Granycome , C. , Ashley , N. , Poulton , J. , Jalanko , A. , Spelbrink , J. N. , Holt , I. J. and Suomalainen , A. 2004 . Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number . Hum. Mol. Genet. , 13 : 3219 – 3227 .
  • Tyynismaa , H. and Suomalainen , A. 2009 . Mouse models of mitochondrial DNA defects and their relevance for human disease . EMBO reports , 10 : 137 – 143 .
  • Larsson , N. , Wang , J. , Wilhelmsson , H. , Oldfors , A. , Rustin , P. , Lewandoski , M. , Barsh , G. and Clayton , D. 1998 . Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice . Nat. Genet. , 18 : 231 – 236 .
  • Taylor , S. , Zhang , H. , Eaton , J. , Rodeheffer , M. , Lebedeva , M. , O'rourke , T. , Siede , W. and Shadel , G. 2005 . The conserved Mec1/Rad53 nuclear checkpoint pathway regulates mitochondrial DNA copy number in Saccharomyces cerevisiae . Mol. Biol. Cell , 16 : 3010 – 3018 .
  • Håkansson , P. , Hofer , A. and Thelander , L. 2006 . Regulation of mammalian ribonucleotide reduction and dNTP pools after DNA damage and in resting cells . J. Biol. Chem. , 281 : 7834 – 7841 .
  • Bourdon , A. , Minai , L. , Serre , V. , Jais , J.-P. , Sarzi , E. , Aubert , S. , Chretien , D. , de Lonlay , P. , Paquis-Flucklinger , V. , Arakawa , H. , Nakamura , Y. , Munnich , A. and Rotig , A. 2007 . Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion . Nat. Genet. , 39 : 776 – 780 .
  • Kulawiec , M. , Ayyasamy , V. and Singh , K. 2009 . p53 regulates mtDNA copy number and mitocheckpoint pathway . J. Carcinogenesis , : 1 – 9 .
  • Lebedeva , M. , Eaton , J. and Shadel , G. 2009 . Loss of p53 causes mitochondrial DNA depletion and altered mitochondrial reactive oxygen species homeostasis . Biochem. Biophys. Acta , 1787 : 328 – 334 .
  • Bogenhagen , D. and Clayton , D. A. 1976 . Thymidylate nucleotide supply for mitochondrial DNA synthesis in mouse L-cells. Effect of 5-fluorodeoxyuridine and methotrexate in thymidine kinase plus and thymidine kinase minus cells . J. Biol. Chem. , 251 : 2938 – 2944 .
  • Kai , Y. , Takamatsu , C. , Tokuda , K. , Okamoto , M. , Irita , K. and Takahashi , S. 2006 . Rapid and random turnover of mitochondrial DNA in rat hepatocytes of primary culture . Mitochondrion , 6 : 299 – 304 .
  • Gross , N. J. , Getz , G. S. and Rabinowitz , M. 1969 . Apparent turnover of mitochondrial deoxyribonucleic acid and mitochondrial phospholipids in the tissues of the rat . J. Biol. Chem. , 244 : 1552 – 1562 .
  • Lee , E. , Lai , Y. , Zhang , H. and Unadkat , J. 2006 . Identification of the mitochondrial targeting signal of the human equilibrative nucleoside transporter 1 (hENT1): implications for interspecies differences in mitochondrial toxicity of fialuridine . J. Biol. Chem. , 281 : 16700 – 16706 .
  • Villarroya , J. , de Bolœs , C. , Meseguer , A. , Hirano , M. and Vila , M. R. 2009 . Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanisms . Exp. Cell Res. , : 1429 – 1438 .
  • Govindarajan , R. , Leung , G. , Zhou , M. , Tse , C. , Wang , J. and Unadkat , J. 2009 . Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3 . Am. J. Physiol. Gastrointest Liver Physiol. , 296 : G910 – G9122 .
  • McKee , E. E. , Bentley , A. T. , Hatch , M. , Gingerich , J. and Susan-Resiga , D. 2004 . Phosphorylation of thymidine and AZT in heart mitochondria: elucidation of a novel mechanism of AZT cardiotoxicity . Cardiovasc. Toxicol. , 4 : 155 – 167 .
  • Watkins , L. and Lewis , R. 1987 . The metabolism of deoxyguanosine in mitochondria: relationship of the uptake of deoxyguanosine to the electron transport chain and adenosine triphosphate . Arch. Biochem. Biophys. , 253 : 315 – 321 .
  • Hubeek , I. , Giovannetti , E. , Broekhuizen , A. , Pastor-Anglada , M. , Kaspers , G. and Peters , G. 2008 . Immunocytochemical detection of hENT1 and hCNT1 in normal tissues, lung cancer cell lines, and NSCLC patient samples . Nucleosides Nucleotides Nucleic Acids , 27 : 787 – 793 .
  • Mathews , C. and Song , S. 2007 . Maintaining precursor pools for mitochondrial DNA replication . FASEB J. , 21 : 2294 – 2303 .
  • Ferraro , P. , Nicolosi , L. , Bernardi , P. , Reichard , P. and Bianchi , V. 2006 . Mitochondrial deoxynucleotide pool sizes in mouse liver and evidence for a transport mechanism for thymidine monophosphate . Proc. Natl. Acad. Sci. U S A. , 103 : 18586 – 18591 .
  • Rylova , S. , Mirzaee , S. , Albertioni , F. and Eriksson , S. 2007 . Expression of deoxynucleoside kinases and 5′-nucleotidases in mouse tissues: implications for mitochondrial toxicity . Biochem. Pharmacol. , 74 : 169 – 175 .
  • Wang , L. and Eriksson , S. dTMP synthesis enzymes in post miotic tissues and mechanism of tissue specific mitochondrial DNA depletion (in prep.).
  • Song , S. , Pursell , Z. , Copeland , W. , Longley , M. , Kunkel , T. and Mathews , C. 2005 . DNA precursor asymmetries in mammalian tissue mitochondria and possible contribution to mutagenesis through reduced replication fidelity . Proc. Natl. Acad. Sci. U S A. , 102 : 4990 – 4995 .
  • Saada , A. 2008 . Mitochondrial deoxyribonucleotide pools in deoxyguansine kinase deficiency . Mol. Genet. Metab. , 95 : 169 – 173 .
  • Wang , L. , Saada , A. and Eriksson , S. 2003 . Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy . J. Biol. Chem. , 278 : 6963 – 6968 .
  • Morris , G. W. , Iams , T. A. , Slepchenko , K. G. and McKee , E. E. 2009 . Origin of pyrimidine deoxyribonucleotide pools in perfused rat heart: implications for 3′-azido-3′-deoxythymidine-dependent cardiotoxicity . Biochem. J. , 422 : 513 – 520 .
  • Ferraro , P. , Pontarin , G. , Crocco , L. , Fabris , S. , Reichard , P. and Bianchi , V. 2005 . Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) . J. Biol. Chem. , 280 : 24472 – 24480 .

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