Random genetic drift determines the level of mutant mtDNA in human primary oocytes
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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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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)
- PMC
- PMC1235288
- 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
- bronze
- doi.org
- Licence
- 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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