grant
G-quadruplexes (G4) are potential DNA roadblocks that perturb mitochondrial replication machinery and pose a clinically relevant source of mitochondrial DNA mutation and instability
Organization NATIONAL INSTITUTE ON AGINGLocation UNITED STATES
NIHUS FederalResearch GrantFY2025AgingBasic ResearchBasic ScienceBinding ProteinsBiochemicalBypassCancersCausalityClinicalComputer AnalysisComputer softwareDNADNA HelicasesDNA ReplicationDNA StructureDNA SynthesisDNA Unwinding ProteinsDNA biosynthesisDNA mutationDNA unwinding enzymeDataDeoxyribonucleic AcidDiseaseDisorderEtiologyG-QuadruplexG-Quadruplexes DNAG-Quartet StructuresG-QuartetsG-TetradsG4-DNAGeneticGenetic ChangeGenetic DiseasesGenetic defectGenetic mutationGenetic predisposing factorGenetics-MutagenesisGenome InstabilityGenomic InstabilityGenomicsGuanineHeritabilityIn VitroLigand Binding ProteinLigand Binding Protein GeneMalignant NeoplasmsMalignant TumorMitochondriaMitochondrial DNAMolecularMutagenesisMutagenesis Molecular BiologyMutationNucleotidesPoint MutationPolymerasePopulation DatabaseProtein BindingRecombinant DNARecombinant DNA Molecular BiologyRecombinant ProteinsRiskRoleSiteSoftwareSourceStructureSystemVariantVariationadductbasebasesbound proteincausationclinical relevanceclinically relevantcohortcomputational analysescomputational analysiscomputer analysesdisease causationgenetic conditiongenetic disordergenetic risk factorgenome analysisgenome mutationhelicasehuman diseaseinherited factormalignancymitochondrialmitochondrial DNA mutationmitochondrial genomemtDNAmtDNA mutationneoplasm/canceroxidative DNA damagereconstitutereconstitutionsocial roletrait
Description preview
Mutations in the mitochondrial (mt) genome are correlated with cancer and aging. G-quadruplexes (G4), dynamic DNA structures that arise in guanine (G)-rich templates, potentially stall the mt replisome and thereby promote mutagenesis. We used computational analyses of genome sequence data from two Italian cohorts to demonstrate an association…
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