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. 1994 Mar 25;22(6):1075–1078. doi: 10.1093/nar/22.6.1075

Detection of deletions in the mitochondrial genome of Caenorhabditis elegans.

S Melov 1, G Z Hertz 1, G D Stormo 1, T E Johnson 1
PMCID: PMC307932  PMID: 8152911

Abstract

We have examined an aging population of Caenorhabditis elegans via a PCR assay to determine if deletions in the mitochondrial genome occur in the nematode. We detected eight such deletions, identified the breakpoints of four of these, and discovered direct repeats of 4-8 base pairs at the site of all four deletions. Six of the eight repeats involved in the deletions are located in or immediately adjacent to tRNAs. Without a biochemical bias, the probability of direct repeats being present at all four breakpoints was 4 x 10(-6).

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Selected References

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  1. Brenner S. The genetics of Caenorhabditis elegans. Genetics. 1974 May;77(1):71–94. doi: 10.1093/genetics/77.1.71. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Chance B., Sies H., Boveris A. Hydroperoxide metabolism in mammalian organs. Physiol Rev. 1979 Jul;59(3):527–605. doi: 10.1152/physrev.1979.59.3.527. [DOI] [PubMed] [Google Scholar]
  3. Corral-Debrinski M., Horton T., Lott M. T., Shoffner J. M., Beal M. F., Wallace D. C. Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age. Nat Genet. 1992 Dec;2(4):324–329. doi: 10.1038/ng1292-324. [DOI] [PubMed] [Google Scholar]
  4. Cortopassi G. A., Arnheim N. Detection of a specific mitochondrial DNA deletion in tissues of older humans. Nucleic Acids Res. 1990 Dec 11;18(23):6927–6933. doi: 10.1093/nar/18.23.6927. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Fleming J. E., Miquel J., Cottrell S. F., Yengoyan L. S., Economos A. C. Is cell aging caused by respiration-dependent injury to the mitochondrial genome? Gerontology. 1982;28(1):44–53. doi: 10.1159/000212510. [DOI] [PubMed] [Google Scholar]
  6. Gadaleta M. N., Rainaldi G., Lezza A. M., Milella F., Fracasso F., Cantatore P. Mitochondrial DNA copy number and mitochondrial DNA deletion in adult and senescent rats. Mutat Res. 1992 Sep;275(3-6):181–193. doi: 10.1016/0921-8734(92)90022-h. [DOI] [PubMed] [Google Scholar]
  7. Harding A. E. Growing old: the most common mitochondrial disease of all? Nat Genet. 1992 Dec;2(4):251–252. doi: 10.1038/ng1292-251. [DOI] [PubMed] [Google Scholar]
  8. Hayashi J., Ohta S., Kikuchi A., Takemitsu M., Goto Y., Nonaka I. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10614–10618. doi: 10.1073/pnas.88.23.10614. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Johnson T. E., Hutchinson E. W. Absence of strong heterosis for life span and other life history traits in Caenorhabditis elegans. Genetics. 1993 Jun;134(2):465–474. doi: 10.1093/genetics/134.2.465. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Johnson T. E. Increased life-span of age-1 mutants in Caenorhabditis elegans and lower Gompertz rate of aging. Science. 1990 Aug 24;249(4971):908–912. doi: 10.1126/science.2392681. [DOI] [PubMed] [Google Scholar]
  11. Johnson T. E., Wood W. B. Genetic analysis of life-span in Caenorhabditis elegans. Proc Natl Acad Sci U S A. 1982 Nov;79(21):6603–6607. doi: 10.1073/pnas.79.21.6603. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Kowald A., Kirkwood T. B. Mitochondrial mutations, cellular instability and ageing: modelling the population dynamics of mitochondria. Mutat Res. 1993 Aug;295(3):93–103. doi: 10.1016/0921-8734(93)90011-q. [DOI] [PubMed] [Google Scholar]
  13. Mita S., Rizzuto R., Moraes C. T., Shanske S., Arnaudo E., Fabrizi G. M., Koga Y., DiMauro S., Schon E. A. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res. 1990 Feb 11;18(3):561–567. doi: 10.1093/nar/18.3.561. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Okimoto R., Macfarlane J. L., Clary D. O., Wolstenholme D. R. The mitochondrial genomes of two nematodes, Caenorhabditis elegans and Ascaris suum. Genetics. 1992 Mar;130(3):471–498. doi: 10.1093/genetics/130.3.471. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Okimoto R., Wolstenholme D. R. A set of tRNAs that lack either the T psi C arm or the dihydrouridine arm: towards a minimal tRNA adaptor. EMBO J. 1990 Oct;9(10):3405–3411. doi: 10.1002/j.1460-2075.1990.tb07542.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Pikó L., Hougham A. J., Bulpitt K. J. Studies of sequence heterogeneity of mitochondrial DNA from rat and mouse tissues: evidence for an increased frequency of deletions/additions with aging. Mech Ageing Dev. 1988 Jun;43(3):279–293. doi: 10.1016/0047-6374(88)90037-1. [DOI] [PubMed] [Google Scholar]
  17. Richter C. Do mitochondrial DNA fragments promote cancer and aging? FEBS Lett. 1988 Dec 5;241(1-2):1–5. doi: 10.1016/0014-5793(88)81018-4. [DOI] [PubMed] [Google Scholar]
  18. Richter C., Park J. W., Ames B. N. Normal oxidative damage to mitochondrial and nuclear DNA is extensive. Proc Natl Acad Sci U S A. 1988 Sep;85(17):6465–6467. doi: 10.1073/pnas.85.17.6465. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Schon E. A., Rizzuto R., Moraes C. T., Nakase H., Zeviani M., DiMauro S. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science. 1989 Apr 21;244(4902):346–349. doi: 10.1126/science.2711184. [DOI] [PubMed] [Google Scholar]
  20. Soong N. W., Hinton D. R., Cortopassi G., Arnheim N. Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain. Nat Genet. 1992 Dec;2(4):318–323. doi: 10.1038/ng1292-318. [DOI] [PubMed] [Google Scholar]
  21. Williams B. D., Schrank B., Huynh C., Shownkeen R., Waterston R. H. A genetic mapping system in Caenorhabditis elegans based on polymorphic sequence-tagged sites. Genetics. 1992 Jul;131(3):609–624. doi: 10.1093/genetics/131.3.609. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Wolstenholme D. R., Macfarlane J. L., Okimoto R., Clary D. O., Wahleithner J. A. Bizarre tRNAs inferred from DNA sequences of mitochondrial genomes of nematode worms. Proc Natl Acad Sci U S A. 1987 Mar;84(5):1324–1328. doi: 10.1073/pnas.84.5.1324. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Zeviani M., Servidei S., Gellera C., Bertini E., DiMauro S., DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature. 1989 May 25;339(6222):309–311. doi: 10.1038/339309a0. [DOI] [PubMed] [Google Scholar]
  24. Zhang C., Baumer A., Maxwell R. J., Linnane A. W., Nagley P. Multiple mitochondrial DNA deletions in an elderly human individual. FEBS Lett. 1992 Feb 3;297(1-2):34–38. doi: 10.1016/0014-5793(92)80321-7. [DOI] [PubMed] [Google Scholar]
  25. Zhang C., Baumer A., Maxwell R. J., Linnane A. W., Nagley P. Multiple mitochondrial DNA deletions in an elderly human individual. FEBS Lett. 1992 Feb 3;297(1-2):34–38. doi: 10.1016/0014-5793(92)80321-7. [DOI] [PubMed] [Google Scholar]

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