Zen and the art of mitochondrial DNA maintenance

Trends in Genetics

Volumn 26, Issue 3, 2010, Pages 103-109

  Holt, Ian J ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; MITOCHONDRIAL DNA; PROTEIN P53; REACTIVE OXYGEN METABOLITE; SINGLE STRANDED DNA BINDING PROTEIN; THYMIDINE PHOSPHORYLASE;

ADENOCARCINOMA; ARTICLE; DIABETES MELLITUS; DNA REPAIR; GENE DELETION; GENE MUTATION; GENE SEGREGATION; HEARING IMPAIRMENT; HETEROPLASMY; HUMAN; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL DNA DISORDER; MITOCHONDRIAL DNA REPLICATION; MITOCHONDRIAL GENETICS; MNGIE SYNDROME; NEUROMUSCULAR DISEASE; NONHUMAN; OSTEOSARCOMA; OXIDATIVE PHOSPHORYLATION; POINT MUTATION; PRIORITY JOURNAL; TERATOCARCINOMA;

ANIMALS; DNA, MITOCHONDRIAL; GENE DELETION; HUMANS; MUTATION; REACTIVE OXYGEN SPECIES; SELECTION, GENETIC; TUMOR SUPPRESSOR PROTEIN P53;

EID: 76749099670     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tig.2009.12.011     Document Type: Article

References (64)

1. Holt I.J., et al. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331 (1988) 717-719
2. Wallace D.C., et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242 (1988) 1427-1430
3. Zeviani M., et al. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 339 (1989) 309-311
4. Moraes C.T., et al. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am. J. Hum. Genet. 48 (1991) 492-501
5. Spelbrink J.N., et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat. Genet. 28 (2001) 223-231
6. Van Goethem G., et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat. Genet. 28 (2001) 211-212
7. Nishino I., et al. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283 (1999) 689-692
8. Saada A., et al. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat. Genet. 29 (2001) 342-344
9. Poulton J., and Holt I.J. 163rd ENMC International Workshop: nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12-14 December 2008, Naarden, The Netherlands. Neuromuscul. Disord. 19 (2009) 439-443
10. Chomyn A., et al. In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. Mol. Cell. Biol. 11 (1991) 2236-2244
11. Hayashi J., et al. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc. Natl. Acad. Sci. U. S. A. 88 (1991) 10614-10618
12. Yoneda M., et al. Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. Proc. Natl. Acad. Sci. U. S. A. 89 (1992) 11164-11168
13. Dunbar D.R., et al. Different cellular backgrounds confer a marked advantage to either mutant or wild type mitochondrial genomes. Proc. Natl. Acad. Sci. U. S. A. 92 (1995) 6562-6566
14. Holt I.J., et al. Behaviour of a population of partially duplicated mitochondrial DNA molecules in cell culture: segregation, maintenance and recombination dependent upon nuclear background. Hum. Mol. Genet. 6 (1997) 1251-1260
15. van den Ouweland J.M., et al. Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome. Eur. J. Hum. Genet. 8 (2000) 195-203
16. Turner C.J., et al. Systematic segregation to mutant mitochondrial DNA and accompanying loss of mitochondrial DNA in human NT2 teratocarcinoma cybrids. Genetics 170 (2005) 1879-1885
17. Geromel V., et al. Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA. Hum. Mol. Genet. 10 (2001) 1221-1228
18. Fukui H., and Moraes C.T. Mechanisms of formation and accumulation of mitochondrial DNA deletions in aging neurons. Hum. Mol. Genet. 18 (2009) 1028-1036
19. Hyvarinen A.K., et al. The mitochondrial transcription termination factor mTERF modulates replication pausing in human mitochondrial DNA. Nucleic. Acids Res. 35 (2007) 6458-6474
20. Hori A., et al. Reactive oxygen species regulate DNA copy number in isolated yeast mitochondria by triggering recombination-mediated replication. Nucleic. Acids Res. 37 (2009) 749-761
21. Moreno-Loshuertos R., et al. Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variants. Nat. Genet. 38 (2006) 1261-1268
22. Stewart J.B., et al. Strong purifying selection in transmission of mammalian mitochondrial DNA. PLoS Biol. 6 (2008) e10
23. Shoubridge E.A., and Wai T. Mitochondrial DNA and the mammalian oocyte. Curr. Top Dev. Biol. 77 (2007) 87-111
24. Bender A., et al. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat. Genet. 38 (2006) 515-517
25. Kraytsberg Y., et al. Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Nat. Genet. 38 (2006) 518-520
26. Ishikawa K., et al. ROS-generating mitochondrial DNA mutations can regulate tumor cell metastasis. Science 320 (2008) 661-664
27. Brandon M., et al. Mitochondrial mutations in cancer. Oncogene 25 (2006) 4647-4662
28. Vergani L., et al. Cultured muscle cells display defects of mitochondrial myopathy ameliorated by anti-oxidants. Brain 130 (2007) 2715-2724
29. Achanta G., et al. Novel role of p53 in maintaining mitochondrial genetic stability through interaction with DNA Pol gamma. EMBO J. 24 (2005) 3482-3492
30. Nguyen K.V., et al. Molecular diagnosis of Alpers syndrome. J. Hepatol. 45 (2006) 108-116
31. Wong T.S., et al. Biophysical characterizations of human mitochondrial transcription factor A and its binding to tumor suppressor p53. Nucleic. Acids Res. 37 (2009) 6765-6783
32. Yoshida Y., et al. P53 physically interacts with mitochondrial transcription factor A and differentially regulates binding to damaged DNA. Cancer Res. 63 (2003) 3729-3734
33. Wong T.S., et al. Physical and functional interactions between human mitochondrial single-stranded DNA-binding protein and tumour suppressor p53. Nucleic. Acids Res. 37 (2009) 568-581
34. Bourdon A., et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat. Genet. 39 (2007) 776-780
35. Spinazzola A., et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat. Genet. 38 (2006) 570-575
36. Wang J., et al. Increased in vivo apoptosis in cells lacking mitochondrial DNA gene expression. Proc. Natl. Acad. Sci. U. S. A. 98 (2001) 4038-4043
37. Lebedeva M.A., et al. Loss of p53 causes mitochondrial DNA depletion and altered mitochondrial reactive oxygen species homeostasis. Biochim. Biophys. Acta. 1787 (2009) 328-334
38. Jenuth J.P., et al. Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat. Genet. 16 (1997) 93-95
39. Brown D.T., et al. Random genetic drift determines the level of mutant mtDNA in human primary oocytes. Am. J. Hum. Genet. 68 (2001) 533-536
40. Chinnery P.F., and Samuels D.C. Relaxed replication of mtDNA: a model with implications for the expression of disease. Am. J. Hum. Genet. 64 (1999) 1158-1165
41. Mita S., et al. Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. Proc. Natl. Acad. Sci. U. S. A. 86 (1989) 9509-9513
42. Petruzzella V., et al. Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. Hum. Mol. Genet. 3 (1994) 449-454
43. Blok R.B., et al. Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes. Am. J. Hum. Genet. 60 (1997) 1495-1501
44. White S.L., et al. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. Am. J. Hum. Genet. 65 (1999) 474-482
45. Chinnery P.F., et al. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 120 Pt 10 (1997) 1713-1721
46. Pyle A., et al. Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation. J. Med. Genet. 44 (2007) 69-74
47. Durham S.E., et al. Progressive depletion of mtDNA in mitochondrial myopathy. Neurology 67 (2006) 502-504
48. Dunbar D.R., et al. Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus. Hum. Mol. Genet. 2 (1993) 1619-1624
49. Lynn S., et al. Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells. Diabetologia 46 (2003) 296-299
50. Carelli V., et al. Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. Biochim. Biophys. Acta. 1787 (2009) 518-528
51. Malena A., et al. Inhibition of mitochondrial fission favours mutant over wild type mitochondrial DNA. Hum. Mol. Genet. 18 (2009) 3407-3416
52. Dufour E., et al. Age-associated mosaic respiratory chain deficiency causes trans-neuronal degeneration. Hum. Mol. Genet. 17 (2008) 1418-1426
53. Hakonen A.H., et al. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Hum. Mol. Genet. 17 (2008) 3822-3835
54. Sarzi E., et al. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann. Neurol. 62 (2007) 579-587
55. Saada A. Deoxyribonucleotides and disorders of mitochondrial DNA integrity. DNA Cell Biol. 23 (2004) 797-806
56. Nishigaki Y., et al. Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J. Clin. Invest. 111 (2003) 1913-1921
57. Nishigaki Y., et al. ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. Hum. Mol. Genet. 13 (2004) 91-101
58. Tyynismaa H., et al. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am. J. Hum. Genet. 85 (2009) 290-295
59. Zhou X., et al. Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice. Hum. Mol. Genet. 17 (2008) 2329-2335
60. Krishnan K.J., et al. Mitochondrial DNA mutations and aging. Ann. N. Y. Acad. Sci. 1100 (2007) 227-240
61. Jacobs H.T. The mitochondrial theory of aging: dead or alive?. Aging. Cell 2 (2003) 11-17
62. Iacovino M., et al. The conserved translocase Tim17 prevents mitochondrial DNA loss. Hum. Mol. Genet. 18 (2009) 65-74
63. Wenz T., et al. Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype. Cell Metab. 8 (2008) 249-256
64. Minczuk M., et al. Sequence-specific modification of mitochondrial DNA using a chimeric zinc finger methylase. Proc. Natl. Acad. Sci. U. S. A. 103 (2006) 19689-19694