ArticleScience advances2021
Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission.
Article in Science advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Inheritance and selection of the mitochondrial genome.Nature reviews. Genetics · 2026Review
- Systematic Engineering of Loss-of-Function Alleles in the Zebrafish Mitochondrial Proteome.bioRxiv : the preprint server for biology · 2026Article
- MitoPerturb-Seq identifies gene-specific single-cell responses to mitochondrial DNA depletion and heteroplasmy.Nature structural & molecular biology · 2026Article
- Programmed mitophagy at the oocyte-to-zygote transition promotes lineage endurance.Nature cell biology · 2026Article
- Trans-generational maintenance of mitochondrial DNA integrity in oocytes during early folliculogenesis.PLoS genetics · 2025Article
- Evaluating Selective Quality Control in Mammalian Oogenesis: Evidence and Opportunities.Annual review of genetics · 2025Review
- Allele frequency selection and no age-related increase in human oocyte mitochondrial mutations.Science advances · 2025Article
- Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.Molecular genetics and metabolism · 2025Article
- Abnormalities of Oocyte Maturation: Mechanisms and Implications.International journal of molecular sciences · 2024Review
- Multiple distinct evolutionary mechanisms govern the dynamics of selfish mitochondrial genomes in Caenorhabditis elegans.Nature communications · 2024Article
- Maternal age enhances purifying selection on pathogenic mutations in complex I genes of mammalian mtDNA.Nature aging · 2024Article
- Origins of tissue and cell-type specificity in mitochondrial DNA (mtDNA) disease.Human molecular genetics · 2024Review
- AMPK Suppression Due to Obesity Drives Oocyte mtDNA Heteroplasmy via ATF5-POLG Axis.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Heteroplasmy and Individual Mitogene Pools: Characteristics and Potential Roles in Ecological Studies.Biology · 2023Review
- High-throughput single-cell analysis reveals progressive mitochondrial DNA mosaicism throughout life.Science advances · 2023Article
- Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations.JCI insight · 2023Article
- Avoiding misleading estimates using mtDNA heteroplasmy statistics to study bottleneck size and selection.G3 (Bethesda, Md.) · 2023Article
- A role for BCL2L13 and autophagy in germline purifying selection of mtDNA.PLoS genetics · 2023Article
- Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline.Human molecular genetics · 2022Article
- Sorting of mitochondrial and plastid heteroplasmy inProceedings of the National Academy of Sciences of the United States of America · 2022Article
Corrections and comments
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Authors and funding
15 authors.
Funding
Abstract
Heteroplasmic mitochondrial DNA (mtDNA) mutations are a common cause of inherited disease, but a few recurrent mutations account for the vast majority of new families. The reasons for this are not known. We studied heteroplasmic mice transmitting m.5024C>T corresponding to a human pathogenic mutation. Analyzing 1167 mother-pup pairs, we show that m.5024C>T is preferentially transmitted from low to higher levels but does not reach homoplasmy. Single-cell analysis of the developing mouse oocytes showed the preferential increase in mutant over wild-type mtDNA in the absence of cell division. A similar inheritance pattern is seen in human pedigrees transmitting several pathogenic mtDNA mutations. In m.5024C>T mice, this can be explained by the preferential propagation of mtDNA during oocyte maturation, counterbalanced by purifying selection against high heteroplasmy levels. This could explain how a disadvantageous mutation in a carrier increases to levels that cause disease but fails to fixate, causing multigenerational heteroplasmic mtDNA disorders.
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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.