ArticleGenome biology2011
Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study.
Article in Genome biology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
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Who cites it
67 citing papers in PubMed.
- The nuclear and mitochondrial genomes need to tango. How is their dance synchronized during development?NAR molecular medicine · 2026Article
- Comparisons of aged samples and modern references provide algorithm for mtDNA analysis in challenging material.Scientific reports · 2025Article
- The movement of mitochondria in breast cancer: internal motility and intercellular transfer of mitochondria.Clinical & experimental metastasis · 2024Review
- Variant load of mitochondrial DNA in single human mesenchymal stem cells.Scientific reports · 2024Article
- 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
- Genetic Diversity, Heteroplasmy, and Recombination in Mitochondrial Genomes of Daphnia pulex, Daphnia pulicaria, and Daphnia obtusa.Molecular biology and evolution · 2022Article
- Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness.BMC biology · 2022Article
- Mitochondrial DNA variation and cancer.Nature reviews. Cancer · 2021Review
- Article
- Heteroplasmy in the complete chicken mitochondrial genome.PloS one · 2019Article
- Nanopore sequencing: An enrichment-free alternative to mitochondrial DNA sequencing.Electrophoresis · 2019Article
- Article
- Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.Frontiers in genetics · 2018Review
- A metabolic pathway for catabolizing levulinic acid in bacteria.Nature microbiology · 2017Article
- Genome sequence and analysis ofMetabolic engineering communications · 2017Article
- The First Mitochondrial Genomics and Evolution SMBE-Satellite Meeting: A New Scientific Symbiosis.Genome biology and evolution · 2017Article
- Mitochondrial DNA variants in colorectal carcinogenesis: Drivers or passengers?Journal of cancer research and clinical oncology · 2017Review
- MitoRS, a method for high throughput, sensitive, and accurate detection of mitochondrial DNA heteroplasmy.BMC genomics · 2017Article
- Patterns of cross-contamination in a multispecies population genomic project: detection, quantification, impact, and solutions.BMC biology · 2017Article
- The ability of human nuclear DNA to cause false positive low-abundance heteroplasmy calls varies across the mitochondrial genome.BMC genomics · 2016Article
7 more citing papers are in PubMed but not listed here.
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7 authors.
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Abstract
backgroundOriginally believed to be a rare phenomenon, heteroplasmy - the presence of more than one mitochondrial DNA (mtDNA) variant within a cell, tissue, or individual - is emerging as an important component of eukaryotic genetic diversity. Heteroplasmies can be used as genetic markers in applications ranging from forensics to cancer diagnostics. Yet the frequency of heteroplasmic alleles may vary from generation to generation due to the bottleneck occurring during oogenesis. Therefore, to understand the alterations in allele frequencies at heteroplasmic sites, it is of critical importance to investigate the dynamics of maternal mtDNA transmission.
resultsHere we sequenced, at high coverage, mtDNA from blood and buccal tissues of nine individuals from three families with a total of six maternal transmission events. Using simulations and re-sequencing of clonal DNA, we devised a set of criteria for detecting polymorphic sites in heterogeneous genetic samples that is resistant to the noise originating from massively parallel sequencing technologies. Application of these criteria to nine human mtDNA samples revealed four heteroplasmic sites.
conclusionsOur results suggest that the incidence of heteroplasmy may be lower than estimated in some other recent re-sequencing studies, and that mtDNA allelic frequencies differ significantly both between tissues of the same individual and between a mother and her offspring. We designed our study in such a way that the complete analysis described here can be repeated by anyone either at our site or directly on the Amazon Cloud. Our computational pipeline can be easily modified to accommodate other applications, such as viral re-sequencing.
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