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

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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 is …
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scholarly articleQ13442814

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P356DOI10.1074/JBC.M114.567073
P932PMC publication ID4208006
P698PubMed publication ID25193669

P50authorJohannes N SpelbrinkQ40021713
Daniel L. KaplanQ41785009
Jean-Louis MergnyQ42434391
P2093author name stringJun Zhou
Joshua A Sommers
Robert M Brosh
Sanjay Kumar Bharti
P2860cites workNovel mitochondrial DNA deletion found in a renal cell carcinomaQ71598964
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndromeQ71793775
Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissuesQ73341946
Biochemical characterization of the DNA substrate specificity of Werner syndrome helicaseQ77948758
Large deletions in mitochondrial DNA in radiation-associated human thyroid tumorsQ78598229
Mitochondrial DNA and diseaseQ85076246
Stimulation of gross chromosomal rearrangements by the human CEB1 and CEB25 minisatellites in Saccharomyces cerevisiae depends on G-quadruplexes or Cdc13Q21144902
Premature ageing in mice expressing defective mitochondrial DNA polymeraseQ24294365
G4 resolvase 1 tightly binds and unwinds unimolecular G4-DNAQ24303584
Human DNA2 is a mitochondrial nuclease/helicase for efficient processing of DNA replication and repair intermediatesQ24312975
Human Dna2 is a nuclear and mitochondrial DNA maintenance proteinQ24316108
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNAQ24563813
Thermal difference spectra: a specific signature for nucleic acid structures.Q24812851
Mechanism of homologous recombination and implications for aging-related deletions in mitochondrial DNAQ27012566
Mitochondrial genome changes and neurodegenerative diseasesQ27023750
Structure of the Human Telomere in K + Solution: A Stable Basket-Type G-Quadruplex with Only Two G-Tetrad LayersQ27654041
Aging: a theory based on free radical and radiation chemistryQ27860549
Sequence and organization of the human mitochondrial genomeQ27860659
Pif1 family helicases suppress genome instability at G-quadruplex motifsQ27932667
Mammalian DNA2 helicase/nuclease cleaves G-quadruplex DNA and is required for telomere integrityQ28118339
Somatic mutations in the D-loop and decrease in the copy number of mitochondrial DNA in human hepatocellular carcinomaQ28249725
The G4 genomeQ28289973
Deletions of mitochondrial DNA in Kearns-Sayre syndromeQ28297900
Mitochondrial diseases in man and mouseQ29614555
Mitochondria and cancerQ29616610
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson diseaseQ29619113
Interaction of human DNA topoisomerase I with G-quartet structuresQ30635800
Following G-quartet formation by UV-spectroscopyQ32012738
Deleted mitochondrial DNA in the skeletal muscle of aged individualsQ67825576
Detection of mitochondrial DNA deletions in the cochlea and its structural elements from archival human temporal bone tissueQ33317872
Processing of G4 DNA by Dna2 helicase/nuclease and replication protein A (RPA) provides insights into the mechanism of Dna2/RPA substrate recognitionQ33348184
G-Quadruplex DNA Sequences Are Evolutionarily Conserved and Associated with Distinct Genomic Features in Saccharomyces cerevisiaeQ33646754
Human mitochondrial topoisomerase IQ33943662
Structure and function of hexameric helicases.Q34019405
Genetic instability triggered by G-quadruplex interacting Phen-DC compounds in Saccharomyces cerevisiaeQ34020165
G‐quadruplex nucleic acids and human diseaseQ34073316
G-quadruplex structures in RNA stimulate mitochondrial transcription termination and primer formationQ34136604
Association of mitochondrial DNA variations with lung cancer risk in a Han Chinese population from southwestern ChinaQ34170799
Defects in mitochondrial DNA replication and human diseaseQ34241192
Mitochondrial DNA deletions are associated with non-B DNA conformationsQ34278779
Directly repeated sequences associated with pathogenic mitochondrial DNA deletionsQ34313597
An appraisal of human mitochondrial DNA instability: new insights into the role of non-canonical DNA structures and sequence motifs.Q34337096
Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibersQ35015881
mtDNA Mutations and Their Role in Aging, Diseases and Forensic SciencesQ35059486
Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classificationQ35166737
Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesisQ35197862
Mitochondrial DNA and human thyroid diseasesQ35837991
Deletions of the mitochondrial genomeQ35848675
DNA replication through hard-to-replicate sites, including both highly transcribed RNA Pol II and Pol III genes, requires the S. pombe Pfh1 helicase.Q35860068
Two direct repeats cause most human mtDNA deletionsQ35864144
The interface of transcription and DNA replication in the mitochondriaQ35907097
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.Q35907687
Human mitochondrial DNA helicase TWINKLE is both an unwinding and annealing helicaseQ35922647
DNA repair and replication fork helicases are differentially affected by alkyl phosphotriester lesionQ36003726
The Q motif of Fanconi anemia group J protein (FANCJ) DNA helicase regulates its dimerization, DNA binding, and DNA repair functionQ36052367
RETRACTED: In vivo and in vitro evidence for slipped mispairing in mammalian mitochondriaQ36483459
A persistent RNA-DNA hybrid is formed during transcription at a phylogenetically conserved mitochondrial DNA sequenceQ36567341
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instabilityQ36595107
The role of mitochondria in agingQ36638140
FANCJ helicase defective in Fanconia anemia and breast cancer unwinds G-quadruplex DNA to defend genomic stabilityQ36710804
Physiological and biochemical defects in carboxyl-terminal mutants of mitochondrial DNA helicaseQ36855814
The relationship of Parkinson disease with agingQ36936656
DNA secondary structures: stability and function of G-quadruplex structuresQ37051064
What causes mitochondrial DNA deletions in human cells?Q37096545
The yeast nuclear gene suv3 affecting mitochondrial post-transcriptional processes encodes a putative ATP-dependent RNA helicaseQ37122753
The yeast Pif1 helicase prevents genomic instability caused by G-quadruplex-forming CEB1 sequences in vivoQ37168915
Specialization among iron-sulfur cluster helicases to resolve G-quadruplex DNA structures that threaten genomic stabilityQ37201282
Circular dichroism and conformational polymorphism of DNA.Q37384531
In-cell optical imaging of exogenous G-quadruplex DNA by fluorogenic ligandsQ37528801
The generation of mitochondrial DNA large-scale deletions in human cells.Q37922086
Visualizing the quadruplex: from fluorescent ligands to light-up probesQ38034133
G-quadruplex-induced instability during leading-strand replicationQ38967736
Replication factors transiently associate with mtDNA at the mitochondrial inner membrane to facilitate replicationQ39069898
Helicase and polymerase move together close to the fork junction and copy DNA in one-nucleotide stepsQ39226842
A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair folliclesQ39256329
Mitochondrial diabetes mellitus: a reviewQ40437302
Distribution of the 9-bp mitochondrial DNA region V deletion among North American Indians.Q40656009
A hybrid G-quadruplex structure formed between RNA and DNA explains the extraordinary stability of the mitochondrial R-loopQ41517167
DNA replication through G-quadruplex motifs is promoted by the Saccharomyces cerevisiae Pif1 DNA helicaseQ41769196
G-quadruplex structures are stable and detectable in human genomic DNA.Q41847291
Mitochondrial DNA deletions serve as biomarkers of aging in the skin, but are typically absent in nonmelanoma skin cancersQ42676472
QuadBase: genome-wide database of G4 DNA--occurrence and conservation in human, chimpanzee, mouse and rat promoters and 146 microbesQ43033108
The N-terminal domain of TWINKLE contributes to single-stranded DNA binding and DNA helicase activitiesQ43042722
Nature of mitochondrial DNA deletions in substantia nigra neuronsQ43058638
Probing telomeric G-quadruplex DNA structures in cells with in vitro generated single-chain antibody fragmentsQ43220425
DnaB drives DNA branch migration and dislodges proteins while encircling two DNA strands.Q44199583
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].Q45852433
Significant existence of deleted mitochondrial DNA in cirrhotic liver surrounding hepatic tumorQ46466427
Mitochondrial DNA variation and the origins of the Aleuts.Q47309387
Transcription of deleted mitochondrial DNA in human colon adenocarcinoma cellsQ48171774
Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons.Q48588748
Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.Q48713162
Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.Q51891859
The S. cerevisiae nuclear gene SUV3 encoding a putative RNA helicase is necessary for the stability of mitochondrial transcripts containing multiple introns.Q52518138
Effect of monovalent cations and G-quadruplex structures on the outcome of intramolecular homologous recombination.Q54479743
Human Pif1 helicase is a G-quadruplex DNA-binding protein with G-quadruplex DNA-unwinding activityQ56552038
Detection of G-quadruplex DNA in mammalian cellsQ57756171
Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: Genetic, biochemical and morphological studiesQ61797405
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndromeQ63681446
Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletionQ67482157
Multiple short direct repeats associated with single mtDNA deletionsQ67503198
P433issue43
P407language of work or nameEnglishQ1860
P921main subjectmitochondrial DNAQ27075
mitochondrionQ39572
P304page(s)29975-29993
P577publication date2014-09-05
P1433published inJournal of Biological ChemistryQ867727
P1476titleDNA 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
P478volume289

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