ArticleJournal of molecular evolution2009
Investigation of heteroplasmy in the human mitochondrial DNA control region: a synthesis of observations from more than 5000 global population samples.
Article in Journal of molecular evolution, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.
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Who cites it
70 citing papers in PubMed.
- Clinical Validation of Digital PCR for Precise m.3243A>G Heteroplasmy Quantification in Early-Onset Diabetes.Journal of diabetes research · 2026Article
- A Post-Mortem Molecular Damage Profile in the Ancient Human Mitochondrial DNA.Molecular ecology resources · 2025Article
- Respiratory Function of Mitochondria in Patients with Coronary Heart Disease with Implantable Cardioverter-Defibrillator.Bulletin of experimental biology and medicine · 2024Article
- Mitochondrial point heteroplasmy: insights from deep-sequencing of human replicate samples.BMC genomics · 2024Article
- An easy-to-use pipeline to analyze amplicon-based Next Generation Sequencing results of human mitochondrial DNA from degraded samples.PloS one · 2024Article
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- DNA and protein analyses of hair in forensic genetics.International journal of legal medicine · 2023Review
- Novel mitochondrial genome rearrangements including duplications and extensive heteroplasmy could underlie temperature adaptations in Antarctic notothenioid fishes.Scientific reports · 2023Article
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- Exploring statistical weight estimates for mitochondrial DNA matches involving heteroplasmy.International journal of legal medicine · 2022Article
- Mitogenome-wise codon usage pattern from comparative analysis of the first mitogenome of Blepharipa sp. (Muga uzifly) with other Oestroid flies.Scientific reports · 2022Article
- Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population.Scientific reports · 2022Article
- Mitochondrial DNA (CA)Genetica · 2022Article
- The Value of Whole-Genome Sequencing for Mitochondrial DNA Population Studies: Strategies and Criteria for Extracting High-Quality Mitogenome Haplotypes.International journal of molecular sciences · 2022Article
- Unparalleled mitochondrial heteroplasmy andCurrent research in insect science · 2022Article
- Post hoc deconvolution of human mitochondrial DNA mixtures by EMMA 2 using fine-tuned Phylotree nomenclature.Computational and structural biotechnology journal · 2022Article
- Massively parallel sequencing of human skeletal remains in Vietnam using the precision ID mtDNA control region panel on the Ion S5™ system.International journal of legal medicine · 2021Article
- Analyzing Low-Level mtDNA Heteroplasmy-Pitfalls and Challenges from Bench to Benchmarking.International journal of molecular sciences · 2021Article
- Damage patterns observed in mtDNA control region MPS data for a range of template concentrations and when using different amplification approaches.International journal of legal medicine · 2021Article
10 more citing papers are in PubMed but not listed here.
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9 authors.
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Abstract
Instances of point and length heteroplasmy in the mitochondrial DNA control region were compiled and analyzed from over 5,000 global human population samples. These data represent observations from a large and broad population sample, representing nearly 20 global populations. As expected, length heteroplasmy was frequently observed in the HVI, HVII and HVIII C-stretches. Length heteroplasmy was also observed in the AC dinucleotide repeat region, as well as other locations. Point heteroplasmy was detected in approximately 6% of all samples, and while the vast majority of heteroplasmic samples comprised two molecules differing at a single position, samples exhibiting two and three mixed positions were also observed in this data set. In general, the sites at which heteroplasmy was most commonly observed correlated with reported control region mutational hotspots. However, for some sites, observations of heteroplasmy did not mirror established mutation rate data, suggesting the action of other mechanisms, both selective and neutral. Interestingly, these data indicate that the frequency of heteroplasmy differs between particular populations, perhaps reflecting variable mutation rates among different mtDNA lineages and/or artifacts of particular population groups. The results presented here contribute to our general understanding of mitochondrial DNA control region heteroplasmy and provide additional empirical information on the mechanisms contributing to mtDNA control region mutation and evolution.
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