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Random Genetic Drift Determines the Level of Mutant mtDNA in Human Primary Oocytes
Open accessAbstract
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 [248].”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [248]
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Cited by
Sorted by citations
Mitochondrial DNA mutations in human disease
Taylor, R. W., & Turnbull, D. M. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1606 · Cited by 1,922
The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease
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Mitochondrial DNA mutations and human disease
Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.09.005 · Cited by 676
“The outcome of speci fi c pregnancies remains unpredictable due to the genetic bottleneck, which leads to considerable variation in the proportion of mutant mtDNA in different offspring [248].”
BackgroundMitochondrial DNA Genetics and the Heteroplasmy Conundrum in Evolution and DiseasePreprint
Dc, W., & Chalkia, D. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a021220 · Cited by 680
Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA
Stewart, J. B., Freyer, C., Elson, J. L., Wredenberg, A., Cansu, Z., Trifunović, A., & Larsson, N. (2008) · PLoS Biology · doi:10.1371/journal.pbio.0060010 · Cited by 525
Metadata
- 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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