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

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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

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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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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.
ORCID: Samuels, D.C.
Turnbull, D.M.
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)
DOI: 10.1086/318190
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: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 4551 d)
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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Random Genetic Drift Determines the Level of Mutant mtDNA in Human Primary Oocytes

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