ArticleAmerican journal of human genetics2000
Hypervariable sites in the mtDNA control region are mutational hotspots.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers.
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Who cites it
102 citing papers in PubMed.
- Variations in mitochondrial genome as potential prognostic markers in sickle cell disease.Haematologica · 2026Article
- Himito: a graph-based toolkit for mitochondrial genome analysis using long reads.Nature communications · 2026Article
- R-loops and D-loops: a delicate balance in genomic stability and instability.Cell communication and signaling : CCS · 2026Review
- Accumulated mtDNA mutations are linked to specific impairments in NADH-linked respiration.iScience · 2026Article
- Spectrum and Impact of Mitochondrial DNA Mutations in Ovarian Cancer.International journal of molecular sciences · 2025Review
- Population genetics of captive spider monkeys in Japan for ex situ conservation.Primates; journal of primatology · 2025Article
- First follicular fluid cf-mtDNA sequencing unveils ovarian stimulation-induced mutations impacting oocyte quality and IVF success.Journal of assisted reproduction and genetics · 2025Article
- Analysis of the sequencing quality of next-generation sequencing for the entire mitochondrial genome in decomposed human samples.International journal of legal medicine · 2025Article
- D-loop mutations in mitochondrial DNA are a risk factor for chemotherapy resistance in esophageal cancer.Scientific reports · 2024Article
- Variant load of mitochondrial DNA in single human mesenchymal stem cells.Scientific reports · 2024Article
- The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems.Journal of applied genetics · 2024Article
- Mitochondrial DNA mosaicism in normal human somatic cells.Nature genetics · 2024Article
- Mutational profiling of mitochondrial DNA reveals an epithelial ovarian cancer-specific evolutionary pattern contributing to high oxidative metabolism.Clinical and translational medicine · 2024Article
- The Analysis of Genetic Polymorphism on Mitochondrial Hypervariable Region III in Thai Population.Genes · 2023Article
- Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.medRxiv : the preprint server for health sciences · 2023Article
- Phylogenetic and genetic variation analysis of lesser short-nosed fruit bat Cynopterus brachyotis (Müller 1838) on Java island, Indonesia, inferred from mitochondrial D-loop.Journal, genetic engineering & biotechnology · 2023Article
- Investigating the role of mitochondrial DNA D-loop variants, haplotypes, and copy number in polycystic ovary syndrome: implications for clinical phenotypes in the Chinese population.Frontiers in endocrinology · 2023Article
- Mutational signature of mtDNA confers mechanistic insight into oxidative metabolism remodeling in colorectal cancer.Theranostics · 2023Article
- A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data.NAR genomics and bioinformatics · 2022Article
- Mutational profiling of mtDNA control region reveals tumor-specific evolutionary selection involved in mitochondrial dysfunction.EBioMedicine · 2022Article
42 more citing papers are in PubMed but not listed here.
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1 author.
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Abstract
Hypervariable sites in human mtDNA are readily identified in evolutionary studies and are usually assumed to represent mutational hotspots. Recently, an alternative hypothesis was proposed that holds that hypervariable sites may instead reflect ancient mtDNA mutations that have been "shuffled" among different lineages via recombination. These hypotheses can be tested by examining the evolutionary rates for sites at which new mtDNA mutations are observed; if hypervariable sites are mutational hotspots, then newly arisen mtDNA mutations should occur preferentially at hypervariable sites. Results of this study show that both germline and somatic mtDNA mutations occur preferentially at hypervariable sites, which supports the view that hypervariable sites are indeed mutational hotspots.
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