Cited by 196Mitochondrial Function and PathologyForensic and Genetic ResearchEvolution and Genetic Dynamics

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

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Brown, D.T., Samuels, D.C., Michael, E.M., Turnbull, D.M., Chinnery, P.F.·2001·The American Journal of Human Genetics

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.

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Crossref · 10.1086/318190

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  • The outcome of specific pregnancies remains unpredictable due to the genetic bottleneck, which leads to considerable variation in the proportion of mutant mtDNA in different offspring.

    “The outcome of specific pregnancies remains unpredictable due to the genetic bottleneck, which leads to considerable variation in the proportion of mutant mtDNA in different offspring [248].”

    From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [248]

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Authors
Brown, D. T., Samuels, D. C., Michael, E. M., Turnbull, D. M., & Chinnery, P. F.
Affiliations
Newcastle University (GB)
Corresponding author
Chinnery, P.F.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2001-02
Volume
68
Issue
2
Pages
533-536
ISSN
0002-9297 (ISSN-L)
OpenAlex
W2033022085
Cited by
196
References
25
Citations by year
2026: 21 · 2025: 5 · 2024: 3 · 2023: 4 · 2022: 3 · 2021: 5 · 2020: 7 · 2019: 6 · 2018: 5 · 2017: 3 · 2016: 11 · 2015: 4 · 2014: 9 · 2013: 7 · 2012: 5
FWCI
3.72
Type
journal article
Language
en
Open access
Locations
  • The American Journal of Human Genetics (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • Newcastle University ePrints (Newcastle Univesity)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
Keywords
genetic drift, mitochondrial DNA, A3243G mutation, primary oocytes, mutational burden, mitochondrial disease
MeSH terms
DNA, Mitochondrial, Family Health, Female, Gene Frequency, Humans, Male, Molecular Sequence Data, Oocytes, Pedigree, Point Mutation

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