ArticleHuman molecular genetics2016
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed.
- Mitochondrial curation for the next generation.Current opinion in genetics & development · 2025Review
- The interplay between mitochondrial DNA genotypes, female infertility, ovarian response, and mutagenesis in oocytes.Human reproduction open · 2025Article
- Aging through the lens of mitochondrial DNA mutations and inheritance paradoxes.Biogerontology · 2024Review
- Evolution and maintenance of mtDNA gene content across eukaryotes.The Biochemical journal · 2024Review
- Modeling-based prediction tools for preimplantation genetic testing of mitochondrial DNA diseases: estimating symptomatic thresholds, risk, and chance of success.Journal of assisted reproduction and 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
- Endocrine Manifestations and New Developments in Mitochondrial Disease.Endocrine reviews · 2022Article
- Organelle bottlenecks facilitate evolvability by traversing heteroplasmic fitness valleys.Frontiers in genetics · 2022Article
- Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype.Frontiers in genetics · 2022Review
- Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission.Science advances · 2021Article
- Mitochondrial DNA disorders: from pathogenic variants to preventing transmission.Human molecular genetics · 2021Review
- Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry.Mitochondrion · 2021Article
- Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro.Communications biology · 2021Article
- A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Extreme heterogeneity of human mitochondrial DNA from organelles to populations.Nature reviews. Genetics · 2021Review
- Embryo and Its Mitochondria.Antioxidants (Basel, Switzerland) · 2021Review
- Inheritance of mitochondrial DNA in humans: implications for rare and common diseases.Journal of internal medicine · 2020Review
- Roles of the mitochondrial replisome in mitochondrial DNA deletion formation.Genetics and molecular biology · 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
- Evolving mtDNA populations within cells.Biochemical Society transactions · 2019Review
Corrections and comments
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17 authors.
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Abstract
With a combined carrier frequency of 1:200, heteroplasmic mitochondrial DNA (mtDNA) mutations cause human disease in ∼1:5000 of the population. Rapid shifts in the level of heteroplasmy seen within a single generation contribute to the wide range in the severity of clinical phenotypes seen in families transmitting mtDNA disease, consistent with a genetic bottleneck during transmission. Although preliminary evidence from human pedigrees points towards a random drift process underlying the shifting heteroplasmy, some reports describe differences in segregation pattern between different mtDNA mutations. However, based on limited observations and with no direct comparisons, it is not clear whether these observations simply reflect pedigree ascertainment and publication bias. To address this issue, we studied 577 mother-child pairs transmitting the m.11778G>A, m.3460G>A, m.8344A>G, m.8993T>G/C and m.3243A>G mtDNA mutations. Our analysis controlled for inter-assay differences, inter-laboratory variation and ascertainment bias. We found no evidence of selection during transmission but show that different mtDNA mutations segregate at different rates in human pedigrees. m.8993T>G/C segregated significantly faster than m.11778G>A, m.8344A>G and m.3243A>G, consistent with a tighter mtDNA genetic bottleneck in m.8993T>G/C pedigrees. Our observations support the existence of different genetic bottlenecks primarily determined by the underlying mtDNA mutation, explaining the different inheritance patterns observed in human pedigrees transmitting pathogenic mtDNA mutations.
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