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PMID: 11133360 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Random genetic drift determines the level of mutant mtDNA in human primary oocytes.

American journal of human genetics ·Vol. 68 ·No. 2 ·2001-02-00 ·Pages 533-6

Brown DT, Samuels DC, Michael EM, Turnbull DM, Chinnery PF

Abstract

We measured the proportion of mutant mtDNA (mutation load) in 82 primary oocytes from a woman who harbored the A3243G mtDNA mutation. The frequency distribution of mutation load indicates that random drift is the principal mechanism that determines the level of mutant mtDNA within individual oocytes.

MeSH Terms
DNA, Mitochondrial/genetics Family Health Female Gene Frequency Humans Male Molecular Sequence Data Oocytes/metabolism Pedigree Point Mutation/genetics
Chemicals
DNA, Mitochondrial
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Brown D T
Department of Neurology, The University of Newcastle upon Tyne, Newcastle upon Tyne, NE2 4HH, United Kingdom.
Samuels D C
Michael E M
Turnbull D M
Chinnery P F
References (23)
23 references, click to expand
  1. A mouse model of mtDNA disease
    Trends Genet. 2000 Nov;16(11):487 PMID: 11074289
  2. Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes.
    Am J Hum Genet. 1997 Jun;60(6):1495-501 PMID: 9199572
  3. Heteroplasmic point mutations in the human mtDNA control region.
    Am J Hum Genet. 1996 Dec;59(6):1276-87 PMID: 8940273
  4. Mitochondrial genetics '98 is the bottleneck cracked?
    Am J Hum Genet. 1998 Apr;62(4):752-7 PMID: 9529369
  5. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.
    Nature. 1990 Dec 13;348(6302):651-3 PMID: 2102678
  6. Mitochondrial respiratory chain disorders I: mitochondrial DNA defects.
    Lancet. 2000 Jan 22;355(9200):299-304 PMID: 10675086
  7. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.
    Am J Hum Genet. 1999 Aug;65(2):474-82 PMID: 10417290
  8. Mitochondrial gene segregation in mammals: is the bottleneck always narrow?
    Hum Genet. 1992 Sep-Oct;90(1-2):117-20 PMID: 1427765
  9. The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?
    Trends Genet. 2000 Nov;16(11):500-5 PMID: 11074292
  10. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.
    J Inherit Metab Dis. 1999 Dec;22(8):899-914 PMID: 10604142
  11. 74th ENMC international workshop: mitochondrial diseases 19-20 november 1999, Naarden, the netherlands.
    Neuromuscul Disord. 2000 Aug;10(6):460-2 PMID: 10899455
  12. Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo.
    Ann Neurol. 2000 Mar;47(3):381-4 PMID: 10716261
  13. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes.
    Nat Genet. 2000 Oct;26(2):176-81 PMID: 11017072
  14. The epidemiology of pathogenic mitochondrial DNA mutations.
    Ann Neurol. 2000 Aug;48(2):188-93 PMID: 10939569
  15. MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.
    Brain. 1998 Oct;121 ( Pt 10):1889-94 PMID: 9798744
  16. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.
    Brain. 1997 Oct;120 ( Pt 10):1713-21 PMID: 9365365
  17. MELAS: clinical features, biochemistry, and molecular genetics.
    Ann Neurol. 1992 Apr;31(4):391-8 PMID: 1586140
  18. A QUANTITATIVE AND CYTOLOGICAL STUDY OF GERM CELLS IN HUMAN OVARIES.
    Proc R Soc Lond B Biol Sci. 1963 Oct 22;158:417-33 PMID: 14070052
  19. 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):617-32 PMID: 8513395
  20. Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation.
    J Neurol Sci. 1994 Jun;124(1):77-82 PMID: 7931425
  21. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA.
    Nat Genet. 1996 Oct;14(2):146-51 PMID: 8841183
  22. Molecular genetic aspects of human mitochondrial disorders.
    Annu Rev Genet. 1995;29:151-78 PMID: 8825472
  23. In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria.
    Mol Cell Biol. 1991 Apr;11(4):2236-44 PMID: 1848674
Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
2001-02-00
Epub
2000-00-29
Pages
533-6
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1235288
Subset
IM
Databases
OMIM
540000
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