Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1996 Oct;59(4):749–755.

Mutational analysis of the human mitochondrial genome branches into the realm of bacterial genetics.

N Howell
PMCID: PMC1914790  PMID: 8808587

Full text

PDF
749

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Abravaya K., Carrino J. J., Muldoon S., Lee H. H. Detection of point mutations with a modified ligase chain reaction (Gap-LCR). Nucleic Acids Res. 1995 Feb 25;23(4):675–682. doi: 10.1093/nar/23.4.675. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Aris-Brosou S., Excoffier L. The impact of population expansion and mutation rate heterogeneity on DNA sequence polymorphism. Mol Biol Evol. 1996 Mar;13(3):494–504. doi: 10.1093/oxfordjournals.molbev.a025610. [DOI] [PubMed] [Google Scholar]
  3. Ballard J. W., Kreitman M. Unraveling selection in the mitochondrial genome of Drosophila. Genetics. 1994 Nov;138(3):757–772. doi: 10.1093/genetics/138.3.757. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Brown W. M., George M., Jr, Wilson A. C. Rapid evolution of animal mitochondrial DNA. Proc Natl Acad Sci U S A. 1979 Apr;76(4):1967–1971. doi: 10.1073/pnas.76.4.1967. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Butcher D. Muller's ratchet, epistasis and mutation effects. Genetics. 1995 Sep;141(1):431–437. doi: 10.1093/genetics/141.1.431. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. 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]
  7. Cortopassi G. A., Shibata D., Soong N. W., Arnheim N. A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues. Proc Natl Acad Sci U S A. 1992 Aug 15;89(16):7370–7374. doi: 10.1073/pnas.89.16.7370. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Dujon B., Bolotin-Fukuhara M., Coen D., Deutsch J., Netter P., Slonimski P. P., Weill L. Mitochondrial genetics. XI. Mutations at the mitochondrial locus omega affecting the recombination of mitochondrial genes in Saccharomyces cerevisiae. Mol Gen Genet. 1976 Jan 16;143(2):131–165. doi: 10.1007/BF00266918. [DOI] [PubMed] [Google Scholar]
  9. Felsenstein J. The evolutionary advantage of recombination. Genetics. 1974 Oct;78(2):737–756. doi: 10.1093/genetics/78.2.737. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. GILLHAM N. W., LEVINE R. P. Studies on the origin of streptomycin resistant mutants in Chlamydomonas reinhardi. Genetics. 1962 Nov;47:1463–1474. doi: 10.1093/genetics/47.11.1463. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Ghosh S. S., Fahy E., Bodis-Wollner I., Sherman J., Howell N. Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing. Am J Hum Genet. 1996 Feb;58(2):325–334. [PMC free article] [PubMed] [Google Scholar]
  12. Gillham N. W. Induction of chromosomal and nonchromosomal mutations in Chlamydomonas reinhardi with N-methyl-N'-nitro-N-nitrosoguanidine. Genetics. 1965 Sep;52(3):529–537. doi: 10.1093/genetics/52.3.529. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Haigh J. The accumulation of deleterious genes in a population--Muller's Ratchet. Theor Popul Biol. 1978 Oct;14(2):251–267. doi: 10.1016/0040-5809(78)90027-8. [DOI] [PubMed] [Google Scholar]
  14. Hattori K., Tanaka M., Sugiyama S., Obayashi T., Ito T., Satake T., Hanaki Y., Asai J., Nagano M., Ozawa T. Age-dependent increase in deleted mitochondrial DNA in the human heart: possible contributory factor to presbycardia. Am Heart J. 1991 Jun;121(6 Pt 1):1735–1742. doi: 10.1016/0002-8703(91)90020-i. [DOI] [PubMed] [Google Scholar]
  15. Holt I. J., Harding A. E., Morgan-Hughes J. A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 1988 Feb 25;331(6158):717–719. doi: 10.1038/331717a0. [DOI] [PubMed] [Google Scholar]
  16. Howell N., Kubacka I., Mackey D. A. How rapidly does the human mitochondrial genome evolve? Am J Hum Genet. 1996 Sep;59(3):501–509. [PMC free article] [PubMed] [Google Scholar]
  17. Hästbacka J., de la Chapelle A., Kaitila I., Sistonen P., Weaver A., Lander E. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet. 1992 Nov;2(3):204–211. doi: 10.1038/ng1192-204. [DOI] [PubMed] [Google Scholar]
  18. Ivanov P. L., Wadhams M. J., Roby R. K., Holland M. M., Weedn V. W., Parsons T. J. Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II. Nat Genet. 1996 Apr;12(4):417–420. doi: 10.1038/ng0496-417. [DOI] [PubMed] [Google Scholar]
  19. Jones M. E., Thomas S. M., Rogers A. Luria-Delbrück fluctuation experiments: design and analysis. Genetics. 1994 Mar;136(3):1209–1216. doi: 10.1093/genetics/136.3.1209. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Jones M. E., Wheldrake J., Rogers A. Luria-Delbrück fluctuation analysis: estimating the Poisson parameter in a compound Poisson distribution. Comput Biol Med. 1993 Nov;23(6):525–534. doi: 10.1016/0010-4825(93)90099-m. [DOI] [PubMed] [Google Scholar]
  21. Jorde L. B. Linkage disequilibrium as a gene-mapping tool. Am J Hum Genet. 1995 Jan;56(1):11–14. [PMC free article] [PubMed] [Google Scholar]
  22. Kendal W. S., Frost P. Pitfalls and practice of Luria-Delbrück fluctuation analysis: a review. Cancer Res. 1988 Mar 1;48(5):1060–1065. [PubMed] [Google Scholar]
  23. Kondrashov A. S. Muller's ratchet under epistatic selection. Genetics. 1994 Apr;136(4):1469–1473. doi: 10.1093/genetics/136.4.1469. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Labuda M., Labuda D., Korab-Laskowska M., Cole D. E., Zietkiewicz E., Weissenbach J., Popowska E., Pronicka E., Root A. W., Glorieux F. H. Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians. Am J Hum Genet. 1996 Sep;59(3):633–643. [PMC free article] [PubMed] [Google Scholar]
  25. Lee R. W., Haughn G. W. Induction and segregation of chloroplast mutations in vegetative cell cultures of chlamydomonas reinhardtii. Genetics. 1980 Sep;96(1):79–94. doi: 10.1093/genetics/96.1.79. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Luria S. E., Delbrück M. Mutations of Bacteria from Virus Sensitivity to Virus Resistance. Genetics. 1943 Nov;28(6):491–511. doi: 10.1093/genetics/28.6.491. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Lynch M., Bürger R., Butcher D., Gabriel W. The mutational meltdown in asexual populations. J Hered. 1993 Sep-Oct;84(5):339–344. doi: 10.1093/oxfordjournals.jhered.a111354. [DOI] [PubMed] [Google Scholar]
  28. Lynch M. Mutation accumulation in transfer RNAs: molecular evidence for Muller's ratchet in mitochondrial genomes. Mol Biol Evol. 1996 Jan;13(1):209–220. doi: 10.1093/oxfordjournals.molbev.a025557. [DOI] [PubMed] [Google Scholar]
  29. MULLER H. J. THE RELATION OF RECOMBINATION TO MUTATIONAL ADVANCE. Mutat Res. 1964 May;106:2–9. doi: 10.1016/0027-5107(64)90047-8. [DOI] [PubMed] [Google Scholar]
  30. Maddox J. Polite row about models in biology. Nature. 1995 Feb 16;373(6515):555–555. doi: 10.1038/373555a0. [DOI] [PubMed] [Google Scholar]
  31. Marchington D. R., Poulton J., Sellar A., Holt I. J. Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease? Hum Mol Genet. 1996 Apr;5(4):473–479. doi: 10.1093/hmg/5.4.473. [DOI] [PubMed] [Google Scholar]
  32. Moraes C. T., DiMauro S., Zeviani M., Lombes A., Shanske S., Miranda A. F., Nakase H., Bonilla E., Werneck L. C., Servidei S. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med. 1989 May 18;320(20):1293–1299. doi: 10.1056/NEJM198905183202001. [DOI] [PubMed] [Google Scholar]
  33. Moran N. A. Accelerated evolution and Muller's rachet in endosymbiotic bacteria. Proc Natl Acad Sci U S A. 1996 Apr 2;93(7):2873–2878. doi: 10.1073/pnas.93.7.2873. [DOI] [PMC free article] [PubMed] [Google Scholar]
  34. Nachman M. W., Boyer S. N., Aquadro C. F. Nonneutral evolution at the mitochondrial NADH dehydrogenase subunit 3 gene in mice. Proc Natl Acad Sci U S A. 1994 Jul 5;91(14):6364–6368. doi: 10.1073/pnas.91.14.6364. [DOI] [PMC free article] [PubMed] [Google Scholar]
  35. Nachman M. W., Brown W. M., Stoneking M., Aquadro C. F. Nonneutral mitochondrial DNA variation in humans and chimpanzees. Genetics. 1996 Mar;142(3):953–963. doi: 10.1093/genetics/142.3.953. [DOI] [PMC free article] [PubMed] [Google Scholar]
  36. Nádas A., Goncharova E. I., Rossman T. G. Maximum likelihood estimation of spontaneous mutation rates from large initial populations. Mutat Res. 1996 Mar 26;351(1):9–17. doi: 10.1016/0027-5107(95)00192-1. [DOI] [PubMed] [Google Scholar]
  37. Ohta T, Gillespie JH. Development of Neutral and Nearly Neutral Theories. Theor Popul Biol. 1996 Apr;49(2):128–142. doi: 10.1006/tpbi.1996.0007. [DOI] [PubMed] [Google Scholar]
  38. Poulton J., Deadman M. E., Bindoff L., Morten K., Land J., Brown G. Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form. Hum Mol Genet. 1993 Jan;2(1):23–30. doi: 10.1093/hmg/2.1.23. [DOI] [PubMed] [Google Scholar]
  39. Rand D. M., Dorfsman M., Kann L. M. Neutral and non-neutral evolution of Drosophila mitochondrial DNA. Genetics. 1994 Nov;138(3):741–756. doi: 10.1093/genetics/138.3.741. [DOI] [PMC free article] [PubMed] [Google Scholar]
  40. Rand D. M., Kann L. M. Excess amino acid polymorphism in mitochondrial DNA: contrasts among genes from Drosophila, mice, and humans. Mol Biol Evol. 1996 Jul;13(6):735–748. doi: 10.1093/oxfordjournals.molbev.a025634. [DOI] [PubMed] [Google Scholar]
  41. Rotig A., Colonna M., Bonnefont J. P., Blanche S., Fischer A., Saudubray J. M., Munnich A. Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet. 1989 Apr 22;1(8643):902–903. doi: 10.1016/s0140-6736(89)92897-3. [DOI] [PubMed] [Google Scholar]
  42. SAGER R. Streptomycin as a mutagen for nonchromosomal genes. Proc Natl Acad Sci U S A. 1962 Dec 15;48:2018–2026. doi: 10.1073/pnas.48.12.2018. [DOI] [PMC free article] [PubMed] [Google Scholar]
  43. Sarkar S. Haldane's solution of the Luria-Delbrück distribution. Genetics. 1991 Feb;127(2):257–261. doi: 10.1093/genetics/127.2.257. [DOI] [PMC free article] [PubMed] [Google Scholar]
  44. Sarkar S., Ma W. T., Sandri G. H. On fluctuation analysis: a new, simple and efficient method for computing the expected number of mutants. Genetica. 1992;85(2):173–179. doi: 10.1007/BF00120324. [DOI] [PubMed] [Google Scholar]
  45. Shenkar R., Navidi W., Tavaré S., Dang M. H., Chomyn A., Attardi G., Cortopassi G., Arnheim N. The mutation rate of the human mtDNA deletion mtDNA4977. Am J Hum Genet. 1996 Oct;59(4):772–780. [PMC free article] [PubMed] [Google Scholar]
  46. 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]
  47. Stewart F. M. Fluctuation tests: how reliable are the estimates of mutation rates? Genetics. 1994 Aug;137(4):1139–1146. doi: 10.1093/genetics/137.4.1139. [DOI] [PMC free article] [PubMed] [Google Scholar]
  48. Stewart F. M., Gordon D. M., Levin B. R. Fluctuation analysis: the probability distribution of the number of mutants under different conditions. Genetics. 1990 Jan;124(1):175–185. doi: 10.1093/genetics/124.1.175. [DOI] [PMC free article] [PubMed] [Google Scholar]
  49. 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]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES