ArticlePloS one2013
An appraisal of human mitochondrial DNA instability: new insights into the role of non-canonical DNA structures and sequence motifs.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Article
- PUMA/RIP3 Mediates Chemotherapy Response via Necroptosis and Local Immune Activation in Colorectal Cancer.Molecular cancer therapeutics · 2024Article
- Article
- Structural variability of CG-rich DNA 18-mers accommodating double T-T mismatches.Acta crystallographica. Section D, Structural biology · 2020Article
- Roles of the mitochondrial replisome in mitochondrial DNA deletion formation.Genetics and molecular biology · 2020Article
- Fundamentals of G-quadruplex biology.Annual reports in medicinal chemistry · 2020Article
- G-quadruplex dynamics contribute to regulation of mitochondrial gene expression.Scientific reports · 2019Article
- Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions.Nature communications · 2019Article
- Potential Roles for G-Quadruplexes in Mitochondria.Current medicinal chemistry · 2019Review
- Pif1 helicase unfolding of G-quadruplex DNA is highly dependent on sequence and reaction conditions.The Journal of biological chemistry · 2018Article
- Mitochondrial DNA replication: a PrimPol perspective.Biochemical Society transactions · 2017Review
- The human mitochondrial transcription factor A is a versatile G-quadruplex binding protein.Scientific reports · 2017Article
- Mitochondrial DNA deletions in patients with chronic suppurative otitis media.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2016Article
- Evidence That G-quadruplex DNA Accumulates in the Cytoplasm and Participates in Stress Granule Assembly in Response to Oxidative Stress.The Journal of biological chemistry · 2016Article
- DNA sequences proximal to human mitochondrial DNA deletion breakpoints prevalent in human disease form G-quadruplexes, a class of DNA structures inefficiently unwound by the mitochondrial replicative Twinkle helicase.The Journal of biological chemistry · 2014Article
- Association of G-quadruplex forming sequences with human mtDNA deletion breakpoints.BMC genomics · 2014Article
- Somatic mtDNA mutation spectra in the aging human putamen.PLoS genetics · 2013Article
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3 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Mitochondrial DNA (mtDNA) deletion mutations are frequently observed in aged postmitotic tissues and are the cause of a wide range of human disorders. Presently, the molecular bases underlying mtDNA deletion formation remain a matter of intense debate, and it is commonly accepted that several mechanisms contribute to the spectra of mutations in the mitochondrial genome. In this work we performed an extensive screening of human mtDNA deletions and evaluated the association between breakpoint density and presence of non-canonical DNA elements and over-represented sequence motifs. Our observations support the involvement of helix-distorting intrinsically curved regions and long G-tetrads in eliciting instability events. In addition, higher breakpoint densities were consistently observed within GC-skewed regions and in the close vicinity of the degenerate sequence motif YMMYMNNMMHM. A parallelism is also established with hot spot motifs previously identified in the nuclear genome, as well as with the minimal binding site for the mitochondrial transcription termination factor mTERF. This study extends the current knowledge on the mechanisms driving mitochondrial rearrangements and opens up exciting avenues for further research.
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