ArticleProceedings of the National Academy of Sciences of the United States of America2018
Biparental Inheritance of Mitochondrial DNA in Humans.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 169 papers, 4 of them syntheses that pooled it.
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Who cites it
169 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- The impact of mitochondrial impairments on sperm function and male fertility: a systematic review.Reproductive biology and endocrinology : RB&E · 2024Pooled it
- Pooled it
- The Role of Mitochondrial DNA Variation in Drug Response: A Systematic Review.Frontiers in genetics · 2021Pooled it
- Pooled it
- Inheritance and selection of the mitochondrial genome.Nature reviews. Genetics · 2026Review
- Maternal age as a driver of genome instability: mechanisms linking aneuploidy, mutagenesis and mitochondrial dysfunction.Archives of toxicology · 2026Review
- Sperm mitochondrial DNA copy number: a marker of male fertility and reproductive success.Human reproduction update · 2026Review
- Evolutionary persistence of a highly prevalent multicopy mitochondrial-derived nuclear insertion (Mega-NUMT) in Neotropical Drosophila flies.Molecular biology and evolution · 2026Article
- Advances in Primary Mitochondrial Diseases: Diagnosis, Natural History Studies and Clinical Trials.Genes · 2026Review
- Review
- Unstable mitochondrial heteroplasmy inPeerJ · 2026Article
- The nuclear and mitochondrial genomes need to tango. How is their dance synchronized during development?NAR molecular medicine · 2026Article
- Phosphomimetic Experiments Do Not Support a Causal Role for TFAM Phosphorylation in mtDNA Elimination in Sperm.Journal of molecular biology · 2025Article
- Crucial Role of Early Detection in Managing Heart Failure in Kearns-Sayre Syndrome: A Case Report.The American journal of case reports · 2025Article
- Asymmetric partitioning of persistent paternal mitochondria during cell divisions safeguards embryo development and mitochondrial inheritance.Developmental cell · 2025Article
- Sequencing and characterizing human mitochondrial genomes in the biobank-based genomic research paradigm.Science China. Life sciences · 2025Review
- Stroke in Pregnancy Brings Epigenetic Changes in Correlation with Affected Mitochondrial Dynamics and Inflammasome Mediated Apoptosis in Rodents.Journal of the American Heart Association · 2025Article
- The cell origin of reactive oxygen species and its implication for evolutionary trade-offs.Open biology · 2025Review
- Intrinsically synthesized melatonin in mitochondria and factors controlling its production.Histology and histopathology · 2025Review
- Moderate embryonic delay of paternal mitochondrial elimination impairs mating and cognition and alters behaviors of adult animals.Science advances · 2024Article
109 more citing papers are in PubMed but not listed here.
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Authors and funding
17 authors.
Funding
Abstract
Although there has been considerable debate about whether paternal mitochondrial DNA (mtDNA) transmission may coexist with maternal transmission of mtDNA, it is generally believed that mitochondria and mtDNA are exclusively maternally inherited in humans. Here, we identified three unrelated multigeneration families with a high level of mtDNA heteroplasmy (ranging from 24 to 76%) in a total of 17 individuals. Heteroplasmy of mtDNA was independently examined by high-depth whole mtDNA sequencing analysis in our research laboratory and in two Clinical Laboratory Improvement Amendments and College of American Pathologists-accredited laboratories using multiple approaches. A comprehensive exploration of mtDNA segregation in these families shows biparental mtDNA transmission with an autosomal dominantlike inheritance mode. Our results suggest that, although the central dogma of maternal inheritance of mtDNA remains valid, there are some exceptional cases where paternal mtDNA could be passed to the offspring. Elucidating the molecular mechanism for this unusual mode of inheritance will provide new insights into how mtDNA is passed on from parent to offspring and may even lead to the development of new avenues for the therapeutic treatment for pathogenic mtDNA transmission.
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