ArticleJournal of molecular evolution2008
Frequency and pattern of heteroplasmy in the control region of human mitochondrial DNA.
Article in Journal of molecular evolution, 2008. 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.
- Internal Validation of Mitochondrial DNA Control Region Using the Precision ID mtDNA Control Region Panel.Genes · 2025Article
- Nanobiopsy investigation of the subcellular mtDNA heteroplasmy in human tissues.Scientific reports · 2024Article
- An easy-to-use pipeline to analyze amplicon-based Next Generation Sequencing results of human mitochondrial DNA from degraded samples.PloS one · 2024Article
- DNA and protein analyses of hair in forensic genetics.International journal of legal medicine · 2023Review
- Evaluating the suitability of current mitochondrial DNA interpretation guidelines for multigenerational whole mitochondrial genome comparisons.Journal of forensic sciences · 2022Article
- Pedigree derived mutation rate across the entire mitochondrial genome of the Norfolk Island population.Scientific reports · 2022Article
- Genomic Landscape of the Mitochondrial Genome in the United Arab Emirates Native Population.Genes · 2020Article
- The role of control region mitochondrial DNA mutations in cardiovascular disease: stroke and myocardial infarction.Scientific reports · 2020Article
- Estimation of the number of contributors to mixed samples of DNA by mitochondrial DNA analyses using massively parallel sequencing.International journal of legal medicine · 2020Article
- Epigenetic Modifications Compromise Mitochondrial DNA Quality Control in the Development of Diabetic Retinopathy.Investigative ophthalmology & visual science · 2019Article
- Phylogenetic analysis of Tibetan mastiffs based on mitochondrial hypervariable region I.Journal of genetics · 2017Article
- Length heteroplasmy of the polyC-polyT-polyC stretch in the dog mtDNA control region.International journal of legal medicine · 2015Article
- Article
- Heteroplasmy in the mitochondrial genomes of human lice and ticks revealed by high throughput sequencing.PloS one · 2013Article
- Site heteroplasmy in the mitochondrial cytochrome b gene of the sterlet sturgeon Acipenser ruthenus.Genetics and molecular biology · 2012Article
- MtDNA diversity of Ghana: a forensic and phylogeographic view.Forensic science international. Genetics · 2012Article
- Segregation of point mutation heteroplasmy in the control region of dog mtDNA studied systematically in deep generation pedigrees.International journal of legal medicine · 2011Review
- The occurrence of mtDNA heteroplasmy in multiple cetacean species.Current genetics · 2011Article
- Evaluating sequence-derived mtDNA length heteroplasmy by amplicon size analysis.Forensic science international. Genetics · 2011Article
- Article
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this work, we present the results of the screening of human mitochondrial DNA (mtDNA) heteroplasmy in the control region of mtDNA from 210 unrelated Spanish individuals. Both hypervariable regions of mtDNA were amplified and sequenced in order to identify and quantify point and length heteroplasmy. Of the 210 individuals analyzed, 30% were fully homoplasmic and the remaining presented point and/or length heteroplasmy. The prevalent form of heteroplasmy was length heteroplasmy in the poly(C) tract of the hypervariable region II (HVRII), followed by length heteroplasmy in the poly(C) tract of hypervariable region I (HVRI) and, finally, point heteroplasmy, which was found in 3.81% of the individuals analyzed. Moreover, no significant differences were found in the proportions of the different kinds of heteroplasmy in the population when blood and buccal cell samples were compared. The pattern of heteroplasmy in HVRI and HVRII presents important differences. Moreover, the mutational profile in heteroplasmy seems to be different from the mutational pattern detected in population. The results suggest that a considerable number of mutations and, particularly, transitions that appear in heteroplasmy are probably eliminated by drift and/or by selection acting at different mtDNA levels of organization. Taking as a whole the results reported in this work, it is mandatory to perform a broad-scale screening of heteroplasmy to better establish the heteroplasmy profile which would be important for medical, evolutionary, and forensic proposes.
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