ArticleGenome research2016
Transmission of human mtDNA heteroplasmy in the Genome of the Netherlands families: support for a variable-size bottleneck.
Article in Genome research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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Who cites it
49 citing papers in PubMed, 102 citations in OpenAlex.
- Inheritance and selection of the mitochondrial genome.Nature reviews. Genetics · 2026Review
- Trans-generational maintenance of mitochondrial DNA integrity in oocytes during early folliculogenesis.PLoS genetics · 2025Article
- Allele frequency selection and no age-related increase in human oocyte mitochondrial mutations.Science advances · 2025Article
- Article
- Variant load of mitochondrial DNA in single human mesenchymal stem cells.Scientific reports · 2024Article
- Characterization and trans-generation dynamics of mitogene pool in the silver carp (Hypophthalmichthys molitrix).G3 (Bethesda, Md.) · 2024Article
- Evolution and maintenance of mtDNA gene content across eukaryotes.The Biochemical journal · 2024Review
- Article
- Heteroplasmy and Individual Mitogene Pools: Characteristics and Potential Roles in Ecological Studies.Biology · 2023Review
- Article
- High-frequency and functional mitochondrial DNA mutations at the single-cell level.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Precision mitochondrial medicine.Cambridge prisms. Precision medicine · 2023Review
- Sorting of mitochondrial and plastid heteroplasmy inProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Identification of Somatic Mitochondrial DNA Mutations, Heteroplasmy, and Increased Levels of Catenanes in Tumor Specimens Obtained from Three Endometrial Cancer Patients.Life (Basel, Switzerland) · 2022Article
- Mitochondrial DNA damage as driver of cellular outcomes.American journal of physiology. Cell physiology · 2022Review
- Organelle bottlenecks facilitate evolvability by traversing heteroplasmic fitness valleys.Frontiers in genetics · 2022Article
- Benchmarking the Effectiveness and Accuracy of Multiple Mitochondrial DNA Variant Callers: Practical Implications for Clinical Application.Frontiers in genetics · 2022Article
- Molecular Pathogenesis and the Possible Role of Mitochondrial Heteroplasmy in Thoracic Aortic Aneurysm.Life (Basel, Switzerland) · 2021Review
- The role of mitophagy during oocyte aging in human, mouse, and Drosophila: implications for oocyte quality and mitochondrial disease.Reproduction & fertility · 2021Review
- Mitochondrial Contributions to Hematopoietic Stem Cell Aging.International journal of molecular sciences · 2021Review
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Authors and funding
20 authors at 9 institutions in 4 countries.
Funding
Abstract
Although previous studies have documented a bottleneck in the transmission of mtDNA genomes from mothers to offspring, several aspects remain unclear, including the size and nature of the bottleneck. Here, we analyze the dynamics of mtDNA heteroplasmy transmission in the Genomes of the Netherlands (GoNL) data, which consists of complete mtDNA genome sequences from 228 trios, eight dizygotic (DZ) twin quartets, and 10 monozygotic (MZ) twin quartets. Using a minor allele frequency (MAF) threshold of 2%, we identified 189 heteroplasmies in the trio mothers, of which 59% were transmitted to offspring, and 159 heteroplasmies in the trio offspring, of which 70% were inherited from the mothers. MZ twin pairs exhibited greater similarity in MAF at heteroplasmic sites than DZ twin pairs, suggesting that the heteroplasmy MAF in the oocyte is the major determinant of the heteroplasmy MAF in the offspring. We used a likelihood method to estimate the effective number of mtDNA genomes transmitted to offspring under different bottleneck models; a variable bottleneck size model provided the best fit to the data, with an estimated mean of nine individual mtDNA genomes transmitted. We also found evidence for negative selection during transmission against novel heteroplasmies (in which the minor allele has never been observed in polymorphism data). These novel heteroplasmies are enhanced for tRNA and rRNA genes, and mutations associated with mtDNA diseases frequently occur in these genes. Our results thus suggest that the female germ line is able to recognize and select against deleterious heteroplasmies.
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