ArticleGenetics2018
A Population Phylogenetic View of Mitochondrial Heteroplasmy.
Article in Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 58 citations in OpenAlex.
- Instance of a Heteroplasmic Mitogenome in Alvinocaridid ShrimpEcology and evolution · 2026Article
- Modeling mitochondrial inheritance enables high-precision single-cell lineage tracing in humans.bioRxiv : the preprint server for biology · 2026Article
- Phylogeographic Analysis for Understanding Origin, Speciation, and Biogeographic Expansion of Invasive Asian Hornet,Life (Basel, Switzerland) · 2024Article
- Evolution and maintenance of mtDNA gene content across eukaryotes.The Biochemical journal · 2024Review
- Stochastic organelle genome segregation through Arabidopsis development and reproduction.The New phytologist · 2024Article
- Whole mitogenome sequencing uncovers a relation between mitochondrial heteroplasmy and leprosy severity.Human genomics · 2023Article
- Secondary structure of the human mitochondrial genome affects formation of deletions.BMC biology · 2023Article
- Sorting of mitochondrial and plastid heteroplasmy inProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Inheritance through the cytoplasm.Heredity · 2022Review
- A Genetic Bottleneck of Mitochondrial DNA During Human Lymphocyte Development.Molecular biology and evolution · 2022Article
- Advanced age increases frequencies of de novo mitochondrial mutations in macaque oocytes and somatic tissues.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Organelle bottlenecks facilitate evolvability by traversing heteroplasmic fitness valleys.Frontiers in genetics · 2022Article
- mtDNA Heteroplasmy: Origin, Detection, Significance, and Evolutionary Consequences.Life (Basel, Switzerland) · 2021Review
- A Naturally Heteroplasmic Clam Provides Clues about the Effects of Genetic Bottleneck on Paternal mtDNA.Genome biology and evolution · 2021Article
- Article
- The spatio-temporal features of chicken mitochondrial ND2 gene heteroplasmy and the effects of nutrition factors on this gene.Scientific reports · 2020Article
- Disentangling the intertwined roles of mutation, selection and drift in the mitochondrial genome.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2020Review
- Pronounced somatic bottleneck in mitochondrial DNA of human hair.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2020Article
- Population-specific signatures of intra-individual mitochondrial DNA heteroplasmy and their potential evolutionary advantages.Scientific reports · 2020Article
- Bottleneck and selection in the germline and maternal age influence transmission of mitochondrial DNA in human pedigrees.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
The mitochondrion has recently emerged as an active player in myriad cellular processes. Additionally, it was recently shown that >200 diseases are known to be linked to variants in mitochondrial DNA or in nuclear genes interacting with mitochondria. This has reinvigorated interest in its biology and population genetics. Mitochondrial heteroplasmy, or genotypic variation of mitochondria within an individual, is now understood to be common in humans and important in human health. However, it is still not possible to make quantitative predictions about the inheritance of heteroplasmy and its proliferation within the body, partly due to the lack of an appropriate model. Here, we present a population-genetic framework for modeling mitochondrial heteroplasmy as a process that occurs on an ontogenetic phylogeny, with genetic drift and mutation changing heteroplasmy frequencies during the various developmental processes represented in the phylogeny. Using this framework, we develop a Bayesian inference method for inferring rates of mitochondrial genetic drift and mutation at different stages of human life. Applying the method to previously published heteroplasmy frequency data, we demonstrate a severe effective germline bottleneck comprised of the cumulative genetic drift occurring between the divergence of germline and somatic cells in the mother, and the separation of germ layers in the offspring. Additionally, we find that the two somatic tissues we analyze here undergo tissue-specific bottlenecks during embryogenesis, less severe than the effective germline bottleneck, and that these somatic tissues experience little additional genetic drift during adulthood. We conclude with a discussion of possible extensions of the ontogenetic phylogeny framework and its possible applications to other ontogenetic processes in addition to mitochondrial heteroplasmy.
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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.