Multiple, large deletions in rat mitochondrial DNA: Evidence for a major hot spot

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 349, Issue 1, 1996, Pages 95-107

  Van Tuyle, Glenn C ^a   Gudikote, Jayanthi P ^a   Hurt, Vicki R ^a   Miller, Bradley B ^a   Moore, Crystal A ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

Author keywords

Animal model; Deletion; Hot spot; PCR; Rat mitochondrial DNA

Indexed keywords

MITOCHONDRIAL DNA;

AGING; ANIMAL MODEL; ARTICLE; BRAIN; CELL CULTURE; FEMALE; GENE DELETION; LYMPHOMA CELL LINE; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RAT;

ANIMALIA;

EID: 0030067344     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/0027-5107(95)00165-4     Document Type: Article

References (36)

1. Baumer, A., C. Zhang, A.W. Linnane and P. Nagley (1994) Age related human mtDNA deletions: a heterogeneous set of deletions arising at a single pair of directly repeated sequences, Am. J. Hum. Genet., 54, 618-630.
2. Brossas, J.-Y., E. Barreau, Y. Courtois and J. Treton (1994) Multiple deletions in mitochondrial DNA are present in mouse brain, Biochem. Biophys. Res. Commun., 202, 654-659.
3. Brown, M.D. and D.C. Wallace (1994) Molecular basis of mitochondrial disease, J. Bioenerg. Biomembr., 26, 273-289.
4. Clayton, D.A. (1982) Replication of animal mitochondrial DNA. Cell, 28, 693-705.
5. Clayton, D.A. (1991) Replication and transcription of vertebrate mitochondrial DNA, Annu. Rev. Cell Biol., 7, 453-478.
6. Corral-Debrinski, M., T. Horton, M.T. Lott, J.M. Shaffner, M.F. Beal and D.C. Wallace (1992) Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age, Nature Genet., 2, 324-329.
7. Cortopassi, G.A. and N. Arnheim (1990) Detection of a specific mitochondrial DNA deletion in tissues of older humans, Nucleic Acids Res., 18, 6927-6933.
8. Cortopassi, G.A., D. Shibata, N.-W. Soong and N. Arnheim (1992) A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues, Proc. Natl. Acad. Sci. USA, 89, 7370-7374.
9. Degoul, F., I. Nelson, N. Romero, B. Obermaier-Kusser, G. Ponsot, C. Marsac and P. Lestienne (1991) Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies, Nucleic Acids Res., 19, 493-496.
10. Edris, W., B. Burgett, O.C. Stine and C.R. Filburn (1994) Detection and quantitation by competitive PCR of an age-associated increase in a 4.8-kb deletion in rat mitochondrial DNA, Mutation Res., 316, 69-78.
11. Gadaleta, G., G. Pepe, G. De Candia, C. Quagliariello, E. Sbisa and C. Saccone (1989) The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates, J. Mol. Evol., 28, 497-516.
12. Gadaleta, M.N., G. Rainaldi, A.M.S. Lezza, F. Milella, F. Fracasso and P. Cantatore (1992) Mitochondrial DNA copy number and mitochondrial DNA deletions in adult and senescent rats, Mutation Res., 275, 181-193.
13. Gout, P.W., C.T. Beer and R.L. Noble (1980) Prolactin-stimulated growth of cell cultures established from malignant Nb rat lymphomas, Cancer Res., 40, 2433-2436.
14. Hagerman, P.J. (1990) Sequence-directed curvature of DNA, Annu. Rev. Biochem., 59, 755-781.
15. Harding, A.E. (1991) Neurological disease and mitochondrial genes, Trends Neurosci., 14, 132-138.
16. Hattori, K., T. Agawa, T. Kondo, M. Mochizuki, M. Tanaka, S. Sugiyuama and T. Ito (1991) Age dependent increase in deleted mitochondrial DNA in human heart: possible contributory factor to presbycardia, Am. Heart J., 122, 866-869.
17. Holt, I.J., A.E. Harding and J.A. Morgan-Hughes (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies Nature, 331, 717-719.
18. Holt, I.J., A.E. Harding and J.A. Morgan-Hughes (1989) Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms, Nucleic Acids Res., 17, 4465-4469.
19. Larsson, N.G., H.G. Eiken, H. Boman, E. Holme, A. Oldfors and M.H. Tulinius (1992) Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child, Am. J. Hum. Genet., 50, 360-363.
20. Lee, C.M., P. Eimon, R. Weindruch and J.M. Aiken (1994) Direct repeat sequences are not required at the breakpoints of age-associated mitochondrial DNA deletions in monkeys, Mechan. Ageing Dev., 75, 69-79.
21. Linnane, A.W., A. Baumer, R.J. Maxwell, H. Preston, C. Zhang and S. Marzuki (1990) Mitochondrial gene mutation: the aging process and degenerative disease, Biochem. Int., 22, 1067-1076.
22. Maniatis, T., E.F. Fritsch and J. Sambrook (1982) Molecular Cloning: A Laboratory Manual. Cold Spring Harbor University Press, Cold Spring Harbor.
23. Marin-Garcia, J., R. Ananthakrishnan and M.J. Goldenthal (1994) Presence of a mitochondrial DNA deletion in fetal and adult bovine cardiac tissue, Biochem. Mol. Biol. Int., 817-825.
24. Melov, S., G.Z. Hertz, G.D. Stormo and T.E. Johnson (1994) Detection of deletions in the mitochondrial genome of Caenorhabditis elegans, Nucleic Acids Res., 22, 1075-1078.
25. Mita, S., R. Rizzuto, C.T. Moraes, S. Shanoke, E. Arnaudo, G.M. Fabrizi, Y. Koga, S. DiMauro and E.A. Schon (1990) Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA, Nucleic Acids Res, 18, 561-567.
26. Saiki, R.K., S. Scharf, S. Faloona, K.B. Mullis, G.T. Horn and H.A. Erlich (1985) Enzymatic amplification of beta-globulin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia, Science, 230, 1350-1354.
27. Sambrook, J., E.F. Fristch and T. Maniatis (1989) Molecular Cloning: A Laboratory Manual; 2nd Edn., Cold Spring Harbor University Press, Cold Spring Harbor.
28. Schoffner, J.M., M.T. Lott, A.S. Voliavec, S.A. Soueidan, D.A. Costigan and D.C. Wallace (1989) Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip replication model and metabolic therapy, Proc. Natl. Acad. Sci. USA, 86, 7952-7956.
29. Schon, E.A., R. Rizzuto, C.T. Moraes, H. Nakase, M. Zeviani and S. DiMauro (1989) A direct repeat is a hot-spot for large-scale deletion of human mitochondrial DNA, Science, 244, 346-349.
30. Schon, E.A., M. Hirano and S. DiMauro (1994) Mitochondrial encephalomyopalthies: clinical and molecular analysis, J. Bioenerg. Biomembr., 26, 291-299.
31. Turker, M.S., J.M. Domenico and D.J. Cummings (1987) Excision-amplification of mitochondrial DNA during senescence in Podospora anserina, J. Mol. Biol., 198, 171-185.
32. Van Tuyle, G.C. and M.L. McPherson (1979) A compact form of rat liver mitochondria! DNA stabilized by bound proteins, J. Biol. Chem., 254, 6044-6053.
33. Wallace, D.C., M.T. Lott, A. Torroni and M.D. Brown (1993) Report of the committee on human mitochondrial DNA, Genome Priority Rep., 1, 727-757.
34. Yen, T.C., J.H. Su, K.L. King and Y.H. Wei (1991) Ageing-associated 5 kb deletion in human liver mitochondrial DNA, Biochem. Biophys. Res. Commun., 178, 124-131.
35. Zassenhaus, H.P., R.A. Butow and Y.P. Hanson (1982) Rapid electroelution of nucleic acids from agarose and polyacrylamide gels, Anal. Biochem., 125, 125-130.
36. Zeviani, M., S. Servidei, C. Gellera, E. Bertini, S. DiMauro and S. DiDonato (1989) An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region, Nature, 339, 309-311.