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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1998 Apr;62(4):752–757. doi: 10.1086/301811

Mitochondrial genetics '98 is the bottleneck cracked?

J Poulton 1, V Macaulay 1, D R Marchington 1
PMCID: PMC1377049  PMID: 9529369

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Selected References

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

  1. Bendall K. E., Macaulay V. A., Baker J. R., Sykes B. C. Heteroplasmic point mutations in the human mtDNA control region. Am J Hum Genet. 1996 Dec;59(6):1276–1287. [PMC free article] [PubMed] [Google Scholar]
  2. Blok R. B., Gook D. A., Thorburn D. R., Dahl H. H. Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes. Am J Hum Genet. 1997 Jun;60(6):1495–1501. doi: 10.1086/515453. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Chen X., Prosser R., Simonetti S., Sadlock J., Jagiello G., Schon E. A. Rearranged mitochondrial genomes are present in human oocytes. Am J Hum Genet. 1995 Aug;57(2):239–247. [PMC free article] [PubMed] [Google Scholar]
  4. Chomyn A. The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics. Am J Hum Genet. 1998 Apr;62(4):745–751. doi: 10.1086/301813. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Cohen J., Scott R., Schimmel T., Levron J., Willadsen S. Birth of infant after transfer of anucleate donor oocyte cytoplasm into recipient eggs. Lancet. 1997 Jul 19;350(9072):186–187. doi: 10.1016/S0140-6736(05)62353-7. [DOI] [PubMed] [Google Scholar]
  6. Davis A. F., Clayton D. A. In situ localization of mitochondrial DNA replication in intact mammalian cells. J Cell Biol. 1996 Nov;135(4):883–893. doi: 10.1083/jcb.135.4.883. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Dunbar D. R., Moonie P. A., Jacobs H. T., Holt I. J. Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes. Proc Natl Acad Sci U S A. 1995 Jul 3;92(14):6562–6566. doi: 10.1073/pnas.92.14.6562. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Hammans S. R., Sweeney M. G., Brockington M., Lennox G. G., Lawton N. F., Kennedy C. R., Morgan-Hughes J. A., Harding A. E. The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. Brain. 1993 Jun;116(Pt 3):617–632. doi: 10.1093/brain/116.3.617. [DOI] [PubMed] [Google Scholar]
  9. Harding A. E., Holt I. J., Sweeney M. G., Brockington M., Davis M. B. Prenatal diagnosis of mitochondrial DNA8993 T----G disease. Am J Hum Genet. 1992 Mar;50(3):629–633. [PMC free article] [PubMed] [Google Scholar]
  10. Hauswirth W. W., Laipis P. J. Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows. Proc Natl Acad Sci U S A. 1982 Aug;79(15):4686–4690. doi: 10.1073/pnas.79.15.4686. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. 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]
  12. Holt I. J., Dunbar D. R., Jacobs H. T. Behaviour of a population of partially duplicated mitochondrial DNA molecules in cell culture: segregation, maintenance and recombination dependent upon nuclear background. Hum Mol Genet. 1997 Aug;6(8):1251–1260. doi: 10.1093/hmg/6.8.1251. [DOI] [PubMed] [Google Scholar]
  13. Howell N., Halvorson S., Kubacka I., McCullough D. A., Bindoff L. A., Turnbull D. M. Mitochondrial gene segregation in mammals: is the bottleneck always narrow? Hum Genet. 1992 Sep-Oct;90(1-2):117–120. doi: 10.1007/BF00210753. [DOI] [PubMed] [Google Scholar]
  14. Jenuth J. P., Peterson A. C., Fu K., Shoubridge E. A. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat Genet. 1996 Oct;14(2):146–151. doi: 10.1038/ng1096-146. [DOI] [PubMed] [Google Scholar]
  15. Jenuth J. P., Peterson A. C., Shoubridge E. A. Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat Genet. 1997 May;16(1):93–95. doi: 10.1038/ng0597-93. [DOI] [PubMed] [Google Scholar]
  16. Laipis P. J. Construction of heteroplasmic mice containing two mitochondrial DNA genotypes by micromanipulation of single-cell embryos. Methods Enzymol. 1996;264:345–357. doi: 10.1016/s0076-6879(96)64033-6. [DOI] [PubMed] [Google Scholar]
  17. Larsson N. G., Holme E., Kristiansson B., Oldfors A., Tulinius M. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res. 1990 Aug;28(2):131–136. doi: 10.1203/00006450-199008000-00011. [DOI] [PubMed] [Google Scholar]
  18. Larsson N. G., Tulinius M. H., Holme E., Oldfors A., Andersen O., Wahlström J., Aasly J. Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. Am J Hum Genet. 1992 Dec;51(6):1201–1212. [PMC free article] [PubMed] [Google Scholar]
  19. Marchington D. R., Hartshorne G. M., Barlow D., Poulton J. Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck. Am J Hum Genet. 1997 Feb;60(2):408–416. [PMC free article] [PubMed] [Google Scholar]
  20. Matthews P. M., Hopkin J., Brown R. M., Stephenson J. B., Hilton-Jones D., Brown G. K. Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues. J Med Genet. 1994 Jan;31(1):41–44. doi: 10.1136/jmg.31.1.41. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Meirelles F. V., Smith L. C. Mitochondrial genotype segregation in a mouse heteroplasmic lineage produced by embryonic karyoplast transplantation. Genetics. 1997 Feb;145(2):445–451. doi: 10.1093/genetics/145.2.445. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Poulton J., Morten K. Noninvasive diagnosis of the MELAS syndrome from blood DNA. Ann Neurol. 1993 Jul;34(1):116–116. doi: 10.1002/ana.410340124. [DOI] [PubMed] [Google Scholar]
  23. Poulton J., O'Rahilly S., Morten K. J., Clark A. Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome. Diabetologia. 1995 Jul;38(7):868–871. doi: 10.1007/s001250050366. [DOI] [PubMed] [Google Scholar]
  24. Suomalainen A., Majander A., Pihko H., Peltonen L., Syvänen A. C. Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription. Hum Mol Genet. 1993 May;2(5):525–534. doi: 10.1093/hmg/2.5.525. [DOI] [PubMed] [Google Scholar]
  25. Tourte M., Mignotte F., Mounolou J. C. Heterogeneous distribution and replication activity of mitochondria in Xenopus laevis oocytes. Eur J Cell Biol. 1984 May;34(1):171–178. [PubMed] [Google Scholar]
  26. Weber K., Wilson J. N., Taylor L., Brierley E., Johnson M. A., Turnbull D. M., Bindoff L. A. A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. Am J Hum Genet. 1997 Feb;60(2):373–380. [PMC free article] [PubMed] [Google Scholar]
  27. Yoneda M., Chomyn A., Martinuzzi A., Hurko O., Attardi G. Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. Proc Natl Acad Sci U S A. 1992 Dec 1;89(23):11164–11168. doi: 10.1073/pnas.89.23.11164. [DOI] [PMC free article] [PubMed] [Google Scholar]

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