ArticleBiology of reproduction2020
Deleterious mtDNA mutations are common in mature oocytes.
Article in Biology of reproduction, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 22 citations in OpenAlex.
- Inheritance and selection of the mitochondrial genome.Nature reviews. Genetics · 2026Review
- Programmed mitophagy at the oocyte-to-zygote transition promotes lineage endurance.Nature cell biology · 2026Article
- Ubiquinol in Fertility and Reproduction: A Conditionally Essential Nutrient for Critical Early-Life Stages.Nutrients · 2026Review
- Trans-generational maintenance of mitochondrial DNA integrity in oocytes during early folliculogenesis.PLoS genetics · 2025Article
- Heteroplasmy and Individual Mitogene Pools: Characteristics and Potential Roles in Ecological Studies.Biology · 2023Review
- The role of mtDNA in oocyte quality and embryo development.Molecular reproduction and development · 2023Review
- Mitochondrial DNA mutations can influence the post-implantation development of human mosaic embryos.Frontiers in cell and developmental biology · 2023Article
- Mitochondrial DNA variants segregate during human preimplantation development into genetically different cell lineages that are maintained postnatally.Human molecular genetics · 2022Article
- Review
- Operation "mitochondrial wipeout" - clearing recipient mitochondria DNA during the cytoplasmic replacement therapy.Journal of assisted reproduction and genetics · 2022Article
- Wenshen Yangxue decoction promotes follicular development in aged female mice stimulation of the silent information regulator 3/forkhead transcription factor O1 3a pathway.Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan · 2022Article
- Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism.Nature communications · 2022Article
- Article
- Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype.Frontiers in genetics · 2022Review
- Extensive analysis of mitochondrial DNA quantity and sequence variation in human cumulus cells and assisted reproduction outcomes.Human reproduction (Oxford, England) · 2021Observational
- Age-related accumulation of de novo mitochondrial mutations in mammalian oocytes and somatic tissues.PLoS biology · 2020Article
Corrections and comments
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Authors and funding
21 authors at 5 institutions in 2 countries.
Funding
Abstract
Heritable mitochondrial DNA (mtDNA) mutations are common, yet only a few recurring pathogenic mtDNA variants account for the majority of known familial cases in humans. Purifying selection in the female germline is thought to be responsible for the elimination of most harmful mtDNA mutations during oogenesis. Here we show that deleterious mtDNA mutations are abundant in ovulated mature mouse oocytes and preimplantation embryos recovered from PolG mutator females but not in their live offspring. This implies that purifying selection acts not in the maternal germline per se, but during post-implantation development. We further show that oocyte mtDNA mutations can be captured and stably maintained in embryonic stem cells and then reintroduced into chimeras, thereby allowing examination of the effects of specific mutations on fetal and postnatal development.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.