Rearrangements in the shorter are of rat mitochondrial DNA involving the region of the heavy and light strand promoters

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 356, Issue 2, 1996, Pages 275-286

  Gudikote, Jayanthi P ^a   Van Tuyle, Glenn C ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

Author keywords

Heavy and light strand promoter; Hot spot; Rat mitochondrial DNA; Rearrangement mutation

Indexed keywords

MITOCHONDRIAL DNA; ALANINE TRANSFER RNA; ASPARAGINE TRANSFER RNA;

AGE; ANIMAL TISSUE; ARTICLE; BRAIN; GENE REARRANGEMENT; MUTATION; NEWBORN; NONHUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; RAT; AGAR GEL ELECTROPHORESIS; ANIMAL; CYTOLOGY; FISCHER 344 RAT; GENETIC TRANSCRIPTION; GENETICS; MOLECULAR CLONING; MOLECULAR GENETICS; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; SPRAGUE DAWLEY RAT; ULTRASTRUCTURE;

AGE FACTORS; ANIMALS; BASE SEQUENCE; BRAIN; CLONING, MOLECULAR; DNA, MITOCHONDRIAL; ELECTROPHORESIS, AGAR GEL; GENE REARRANGEMENT; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; PROMOTER REGIONS (GENETICS); RATS; RATS, INBRED F344; RATS, SPRAGUE-DAWLEY; REPETITIVE SEQUENCES, NUCLEIC ACID; RNA, TRANSFER, ALA; RNA, TRANSFER, ASN; TRANSCRIPTION, GENETIC;

EID: 0030599207     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/0027-5107(96)00073-5     Document Type: Article

References (58)

1. Anderson, S., A.T. Bankier, B.G. Barrell, M.H.L. deBruijn, A.R. Coulson, J. Drouin, I.C., Eperon, D.P. Nierlich, B.A. Roe, F. Sanger, P.H. Schreier, A.J.H. Smith, R. Staden and I.G. Young (1981) Sequence organization of the human mitochondrial genome, Nature, 290, 487-465.
2. 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.
3. 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.
4. Brown, M.D. and D.C. Wallace (1994) Molecular basis of mitochondrial disease, J. Bioenerg. Biomembr., 26, 273-289.
5. Cantatore, P., L. Daddabbo, F. Fracasso and M.N. Gadaleta (1995) Identification by in organello footprinting of protein contact sites of single strand DNA sequences in the regulatory region of rat mitochondrial DNA, J. Biol. Chem., 42, 25020-25027.
6. Chang, D.D. and D.A. Clayton (1985) Priming of human mitochondrial DNA replication occurs at the light-strand promoter, Proc. Natl. Acad. Sci. USA, 82, 351-355.
7. Chang, D.D., W.W. Hauswirth and D.A. Clayton (1985) Replication priming and transcription initiate from precisely the same site in mouse mitochondrial DNA, EMBO J., 4, 1559-1567.
8. Chen, X., R. Prosser, S. Simonetti, J. Sadlock, G. Jagiello and E.A. Schon (1995) Rearranged mitochondrial genomes are present in human oocytes, Am. J. Hum. Genet., 57, 239-247.
9. Chung, S.S., R. Weindruch, S.R. Schwarz, D.I. McKenzie and J.M. Aiken (1994) Multiple age-associated mitochondrial DNA deletions in skeletal muscle of mice, Aging Clin. Exp. Res., 6, 193-200.
10. Clayton, D.A. (1982) Replication of animal mitochondrial DNA, Cell, 28, 693-705.
11. Clayton, D.A. (1984) Transcription of the mammalian mitochondrial genome, Annu. Rev. Biochem., 53, 573-594.
12. Clayton, D.A. (1991) Replication and transcription of vertebrate mitochondrial DNA, Annu. Rev. Cell Biol., 7, 453-478.
13. Corral-Debrinski, M., T. Horton, M.T. Lott, J.M. Shoffner, 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.
14. 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.
15. 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.
16. 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.
17. Fisher, R.P. and D.A. Clayton (1985) A transcription factor required for promoter recognition by human mitochondrial RNA polymerase, J. Biol. Chem., 260, 11330-11338.
18. Fisher, R.P., T. Lisowsky, M.A. Parisi and D.A. Clayton (1992) DNA wrapping and binding by a mitochondrial high mobility group-like transcription activator protein, J. Biol. Chem., 267, 3358-3367.
19. 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.
20. 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.
21. Hammans, S.R., M.G. Sweeny, D.A.G. Wicks, J.A. Morgan-Hughes and A.E. Harding (1992) A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies, Brain, 115, 343-365.
22. 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.
23. 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.
24. Johns, D.R. and D.R. Cornblath (1991) Molecular insight into the asymmetric distribution of pathogenic human mitochondrial DNA deletions, Biochem. Biophys. Res. Commun., 174, 244-250.
25. Katayama, M., M. Tanaka, H. Yamamoto, T. Ohbayashi, Y. Nimura and T. Ozawa (1991) Deleted mitochondrial DNA in the skeletal muscle of aged individuals, Biochem. Intl., 25, 47-56.
26. Keefe, D.L., T. Niven-Fairchild, S. Powell and S. Buradayunta (1995) Mitochondrial deoxyribonucleic acid deletions in oocytes and reproductive aging in women, Fertil. Steril., 64, 577-583.
27. Larsson, N.G., E. Holme, B. Kristiansson, A. Oldfors and M. Tulinius (1990) Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome, Pediatr. Res., 28, 131-136.
28. 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.
29. Lestienne, P. and G. Ponsot (1988) Kearns-Sayre syndrome with muscle mitochondrial DNA deletion, Lancet, i, 885.
30. 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.
31. Maniatis, T., E.F. Fritsch and J. Sambrook (1982) Molecular Cloning: A Laboratory Manual. Cold Spring Harbor University Press, Cold Spring Harbor.
32. 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., 33, 817-825.
33. 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.
34. Mita, S., B. Schmidt, E.A. Schon, S. DiMauro and E. Bonilla (1989) Detection of 'deleted' mitochondrial genomes in cytochrome oxidase deficient muscle fibers of a patient with Kearns-Sayre syndrome, Proc. Natl. Acad. Sci. USA, 86, 9509-9513.
35. 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.
36. Moraes, C.T., S. DiMauro, M. Zeviani, A. Lombes, S. Shanske, A.F. Miranda, H. Nakase, E. Bonilla, L.C. Werneck, S. Servidei, I. Nonaka, Y. Koga, A.J. Spiro, K.W. Brownell, B. Schmidt, D.L. Schotland, M. Zupanc, D.C. DeVivo, E.A. Schon and L.P. Rowland (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome, N. Engl. J. Med., 320, 1293-1299.
37. Moraes, C.T., F. Andreatta, E. Bonilla, S. Shanske, S. DiMauro and E.A. Schon (1991) Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region, Mol. Cell Biol., 11, 1631-1637.
38. Moraes, C.T., E. Ricci, V. Petruzzella, S. Shanske, S. DiMauro E.A. Schon and E. Bonilla (1992) Molecular analysis of the muscle pathology associated with mitochondrial deletions, Nature Genet., 1, 359-367.
39. Poulton, J. and I.J. Holt (1994) Mitochondrial DNA: does more lead to less, Nature Genet., 8, 313-315.
40. Poulton, J., M.E. Deadman and R.M. Gardiner (1989) Duplications of mitochondrial DNA in mitochondrial myopathy, Lancet, i, 236-240.
41. Poulton, J., K.J. Morten, D. Marchington, K. Weber, G.K. Brown, A. Rotig and L. Bindoff (1995)Duplications of mitochondrial DNA in Kearnes-Sayre syndrome, Muscle Nerve. Suppl. 3, S154-S158.
42. Rotig, A., M. Colonna, J.P. Bonnefont, S. Blanch, A. Fischer, J.-M. Saudubray and A. Munnich (1989) Mitochondrial DNA deletion in Pearson's marrow-pancreas syndrome, Lancet, i, 902-903.
43. Rotig, A., J.-L. Bessis, N. Romero, V. Cormier, J.-M. Saudubray, P. Narcy, G. Lenoir and A. Munnich (1992) Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia, Am. J. Hum. Genet., 50, 364-370.
44. Sbisa, E., M. Nadelli, F. Tanzariello, A. Tullo and C. Saccone (1990) The complete and symmetric transcription of the main noncoding region of rat mitochondrial genome: in vivo mapping of heavy and light strand transcripts, Curr. Genet., 17, 247-253.
45. Schon, E.A., R. Rizzuto, C.T. Moraes, H. Nakase, M. Zeviani and S. DiMauro (1989) A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA, Science, 244, 346-349.
46. Schon, E.A., M. Hirano and S. DiMauro (1994) Mitochondrial encephalomyopathies: clinical and molecular analysis, J. Bioenerg. Biomembr., 26, 291-299.
47. Shadel, G.S. and D.A. Clayton (1993) Mitochondrial transcription initiation, J. Biol. Chem., 268, 16083-16086.
48. Shoffner, 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.
49. Tanhauser, S.M. and P.J. Laipis (1995) Multiple deletions are detectable in mitochondrial DNA of aging mice, J. Biol. Chem., 270, 24769-24775.
50. Van Tuyle, G.C. and M.L. McPherson (1979) A compact form of rat liver mitochondrial DNA stabilized by bound proteins, J. Biol. Chem., 254, 6044-6053.
51. Van Tuyle, G.C., J.P. Gudikote, V.H. Hurt, B.B. Miller and C.A. Moore (1996) Multiple, large deletions in rat mitochondrial DNA: Evidence for a major hot spot, Mutation Res., 349, 95-107.
52. Wallace, D.C. (1989) Mitochondrial DNA mutation and neuromuscular disease, Trends Genet., 5, 9-13.
53. 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.
54. Wallace, D.C., J.M. Shoffner, I. Trounce, M.D. Brown, S.W. Ballinger, M. Corral-Debrinski, T. Horton, A.S. Jun and M. Lott (1995) Mitochondrial DNA mutations in human degenerative diseases and aging, Biochim. Biophys. Acta, 1271, 141-151.
55. 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.
56. 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.
57. Zeviani, M., C.T. Moraes, S. DiMauro, H. Nakase, E. Bonilla, E.A. Schon and L.P. Rowland (1988) Deletions of mitochondrial DNA in Kearns-Sayre syndrome, Neurology, 38, 1339-1346.
58. 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.