Double-strand breaks of mouse muscle mtDNA promote large deletions similar to multiple mtDNA deletions in humans

Human Molecular Genetics

Volumn 14, Issue 7, 2005, Pages 893-902

  Srivastava, Sarika ^a   Moraes, Carlos T ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DOUBLE STRANDED DNA; MITOCHONDRIAL DNA; RESTRICTION ENDONUCLEASE;

3' UNTRANSLATED REGION; AGING; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHIMERA; CONTROLLED STUDY; DNA STRAND BREAKAGE; GENE DELETION; GENE EXPRESSION; GENE REARRANGEMENT; MALE; MITOCHONDRIAL DNA DEPLETION; MITOCHONDRIAL DNA DISORDER; MOLECULAR EVOLUTION; MOUSE; MYOPATHY; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESPIRATORY CHAIN; SKELETAL MUSCLE; TRANSGENE; TRANSGENIC MOUSE; WILD TYPE;

ANIMALS; BASE SEQUENCE; BLOTTING, SOUTHERN; DISEASE MODELS, ANIMAL; DNA DAMAGE; DNA PRIMERS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; GENE DELETION; HUMANS; IMMUNOHISTOCHEMISTRY; MICE; MICE, TRANSGENIC; MICROSCOPY, ELECTRON; MITOCHONDRIA; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCLES; MUSCULAR DISEASES; PHYLOGENY; POLYMERASE CHAIN REACTION; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA; TRANSGENES;

MUS MUSCULUS;

EID: 17344372911     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddi082     Document Type: Article

References (28)

1. Zeviani, M. and Carelli, V. (2003) Mitochondrial disorders. Curr. Opin. Neurol., 16, 585-594.
2. Ozawa, T. (1999) Mitochondrial genome mutation in cell death and aging. J. Bioenerg. Biomembr., 31, 377-390.
3. Zeviani, M., Bresolin, N., Gellera, C., Bordoni, A., Pannacci, M., Amati, P., Moggio, M., Servidei, S., Scarlato, G. and DiDonato, S. (1990) Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am. J. Hum. Genet., 47, 904-914.
4. Wanrooij, S., Luoma, P., van Goethem, G., van Broeckhoven, C., Suomalainen, A. and Spelbrink, J.N. (2004) Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. Nucleic Acids Res., 32, 3053-3064.
5. Schon, E.A., Rizzuto, R., Moraes, C.T., Nakase, H., Zeviani, M. and DiMauro, S. (1989) A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science, 244, 346-349.
6. Samuels, D.C., Schon, E.A. and Chinnery, P.F. (2004) Two direct repeats cause most human mtDNA deletions. Trends Genet., 20, 393-398.
7. Lee, D.Y. and Clayton, D.A. (1998) Initiation of mitochondrial DNA replication by transcription and R-loop processing. J. Biol. Chem., 273, 30614-30621.
8. Bowmaker, M., Yang, M.Y., Yasukawa, T., Reyes, A., Jacobs, H.T., Huberman, J.A. and Holt, I.J. (2003) Mammalian mitochondrial DNA replicates bidirectionally from an initiation zone. J. Biol. Chem., 278, 50961-50969.
9. Michel, B., Flores, M.J., Viguera, E., Grompone, G., Seigneur, M. and Bidnenko, V. (2001) Rescue of arrested replication forks by homologous recombination. Proc. Natl Acad. Sci. USA, 98, 8181-8188.
10. Mita, S., Rizzuto, R., Moraes, C.T., Shanske, S., Arnaudo, E., Fabrizi, G.M., Koga, Y., DiMauro, S. and Schon, E.A. (1990) Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res., 18, 561-567.
11. Haber, J.E. (2000) Partners and pathwaysrepairing a double-strand break. Trends Genet., 16, 259-264.
12. Imlay, J.A. and Linn, S. (1988) DNA damage and oxygen radical toxicity. Science, 240, 1302-1309.
13. Dudas, A. and Chovanec, M. (2004) DNA double-strand break repair by homologous recombination. Mutat. Res., 566, 131-167.
14. Szostak, J.W., Orr-Weaver, T.L., Rothstein, R.J. and Stahl, F.W. (1983) The double-strand-break repair model for recombination. Cell, 33, 25-35.
15. Nishigaki, Y., Marti, R. and Hirano, M. (2004) ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. Hum. Mol. Genet., 13, 91-101.
16. Nishigaki, Y., Marti, R., Copeland, W.C. and Hirano, M. (2003) Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J. Clin. Invest., 111, 1913-1921.
17. 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.
18. Oshima, J., Huang, S., Pae, C., Campisi, J. and Schiestl, R.H. (2002) Lack of WRN results in extensive deletion at nonhomologous joining ends. Cancer Res., 62, 547-551.
19. Srivastava, S. and Moraes, C.T. (2001) Manipulating mitochondrial DNA heteroplasmy by a mitochondrially targeted restriction endonuclease. Hum. Mol. Genet., 10, 3093-3099.
20. Muscat, G.E. and Kedes, L. (1987) Multiple 5′-flanking regions of the human alpha-skeletal actin gene synergistically modulate muscle-specific expression. Mol. Cell. Biol., 7, 4089-4099.
21. Brennan, K.J. and Hardeman, E.C. (1993) Quantitative analysis of the human alpha-skeletal actin gene in transgenic mice. J. Biol. Chem., 268, 719-725.
22. Crawford, G.E., Faulkner, J.A., Crosbie, R.H., Campbell, K.P., Froehner, S.C. and Chamberlain, J.S. (2000) Assembly of the dystrophin-associated protein complex does not require the dystrophin COOH-terminal domain. J. Cell Biol., 150, 1399-1410.
23. Barrientos, A., Kenyon, L. and Moraes, C.T. (1998) Human xenomitochondrial cybrids. Cellular models of mitochondrial complex I deficiency. J. Biol. Chem., 273, 14210-14217.
24. Miller, D.L., Dougherty, M.M., Decker, S.J. and Bossart, G.D. (2001) Ultrastructure of the spermatozoa from a Florida manatee (Trichechus manatus latirostris). Anat. Histol. Embryol., 30, 253-256.
25. Sciacco, M. and Bonilla, E. (1996) Cytochemistry and immunocytochemistry of mitochondria in tissue sections. Methods Enzymol., 264, 509-521.
26. Bibb, M.J., van Etten, R.A., Wright, C.T., Walberg, M.W. and Clayton, D.A. (1981) Sequence and gene organization of mouse mitochondrial DNA. Cell, 26, 167-180.
27. Moraes, C.T. and Schon, E.A. (1996) Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR. Methods Enzymol., 264, 522-540.
28. Tanaka, M., Borgeld, H.J., Zhang, J., Muramatsu, S., Gong, J.S., Yoneda, M., Maruyama, W., Naoi, M., Ibi, T., Sahashi, K. et al. (2002) Gene therapy for mitochondrial disease by delivering restriction endonuclease SmaI into mitochondria. J. Biomed. Sci., 9, 534-541.