Genome integrity and disease prevention in the nervous system

This review by McKinnon focuses on the etiology of DNA damage in the nervous system and the multiple DNA repair pathways that maintain genome stability and prevent human neurologic disease.

• Publication year

  2017

• Venue

  Genes & Development

• Publication date

  2017-06-15

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1101/gad.301325.117PMID 28765160PMCID 5558921
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects.

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• Fanconi Anemia

  2019cited by this paper
• DNA-PKcs, ATM, and ATR Interplay Maintains Genome Integrity during Neurogenesis

  2017cited by this paper
• Topoisomerase I‐mediated cleavage at unrepaired ribonucleotides generates DNA double‐strand breaks

  2017cited by this paper
• Genome instability: Linking ageing and brain degeneration.

  2017cited by this paper
• Poly(ADP-ribose)polymerase-1 hyperactivation in neurodegenerative diseases: The death knell tolls for neurons.

  2017cited by this paper
• The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery

  2017influential reference
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• PARPs and ADP-ribosylation: recent advances linking molecular functions to biological outcomes

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• Endogenous DNA Damage as a Source of Genomic Instability in Cancer.

  2017cited by this paper
• Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

  2017cited by this paper
• Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease.

  2017cited by this paper
• The role of RNase H2 in processing ribonucleotides incorporated during DNA replication.

  2017cited by this paper
• Coordination of DNA single strand break repair.

  2017cited by this paper
• Processing ribonucleotides incorporated during eukaryotic DNA replication

  2016influential reference
• Nbs1 Converts the Human Mre11/Rad50 Nuclease Complex into an Endo/Exonuclease Machine Specific for Protein-DNA Adducts.

  2016cited by this paper
• Impact of ribonucleotide incorporation by DNA polymerases β and λ on oxidative base excision repair

  2016cited by this paper
• NAD+ Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair.

  2016cited by this paper
• Ataxia telangiectasia: a review

  2016cited by this paper
• Mre11 Is Essential for the Removal of Lethal Topoisomerase 2 Covalent Cleavage Complexes.

  2016cited by this paper
• DNA ligase IV syndrome; a review

  2016cited by this paper
• Interplay between Fanconi anemia and homologous recombination pathways in genome integrity

  2016cited by this paper
• RNase H enables efficient repair of R-loop induced DNA damage

  2016cited by this paper
• Inefficient DNA Repair Is an Aging-Related Modifier of Parkinson’s Disease

  2016influential reference
• Conflict Resolution in the Genome: How Transcription and Replication Make It Work.

  2016cited by this paper
• XRCC1 Mutation is Associated with PARP1 Hyperactivation and Cerebellar Ataxia

  2016cited by this paper
• Two familial ALS proteins function in prevention/repair of transcription-associated DNA damage

  2016cited by this paper
• MRN, CtIP, and BRCA1 mediate repair of topoisomerase II–DNA adducts

  2016cited by this paper
• Topoisomerases and the regulation of neural function

  2016cited by this paper
• DNA-PKcs, ATM and ATR interplay maintains genome integrity during neurogenesis.

  2016cited by this paper
• Roles of eukaryotic topoisomerases in transcription, replication and genomic stability

  2016cited by this paper
• The REST remodeling complex protects genomic integrity during embryonic neurogenesis

  2016cited by this paper
• The Balancing Act of Ribonucleotides in DNA.

  2016influential reference
• Aicardi–Goutières syndrome and the type I interferonopathies

  2015cited by this paper
• Base Excision Repair in the Mitochondria

  2015cited by this paper
• BRCA1 Recruitment to Transcriptional Pause Sites Is Required for R-Loop-Driven DNA Damage Repair

  2015cited by this paper
• Unwinding the role of senataxin in neurodegeneration.

  2015cited by this paper
• Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

  2015influential reference
• Single mammalian cells compensate for differences in cellular volume and DNA copy number through independent global transcriptional mechanisms.

  2015cited by this paper
• ATM Functions at the Peroxisome to Induce Pexophagy in Response to ROS

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• Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

  2015cited by this paper
• R loops: new modulators of genome dynamics and function

  2015cited by this paper
• Activity-Induced DNA Breaks Govern the Expression of Neuronal Early-Response Genes.

  2015cited by this paper
• The core spliceosome as target and effector of non-canonical ATM signaling

  2015cited by this paper
• Consensus Paper: Cerebellar Development

  2015cited by this paper
• Polynucleotide kinase–phosphatase enables neurogenesis via multiple DNA repair pathways to maintain genome stability

  2015cited by this paper
• Ataxia telangiectasia: more variation at clinical and cellular levels

  2015cited by this paper
• TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

  2015cited by this paper
• Eukaryotic Mismatch Repair in Relation to DNA Replication.

  2015cited by this paper
• Breaking bad: R-loops and genome integrity.

  2015cited by this paper
• Error‐free and mutagenic processing of topoisomerase 1‐provoked damage at genomic ribonucleotides

  2015cited by this paper
• DNA repair factor BRCA1 depletion occurs in Alzheimer brains and impairs cognitive function in mice

  2015cited by this paper
• Genomic integrity and the ageing brain

  2015cited by this paper
• Transcriptional elongation requires DNA break-induced signalling

  2015cited by this paper
• Mechanisms of ATM Activation.

  2015cited by this paper
• The Fanconi Anemia Pathway Protects Genome Integrity from R-loops

  2015cited by this paper
• Mechanisms underlying mutational signatures in human cancers

  2014cited by this paper
• Hypomorphic PCNA mutation underlies a human DNA repair disorder.

  2014cited by this paper
• Ribonucleotide triggered DNA damage and RNA-DNA damage responses

  2014cited by this paper
• How the misincorporation of ribonucleotides into genomic DNA can be both harmful and helpful to cells

  2014cited by this paper
• The Fanconi anemia DNA repair pathway: structural and functional insights into a complex disorder.

  2014cited by this paper
• DNA damage and its links to neurodegeneration.

  2014cited by this paper
• Transcription-coupled nucleotide excision repair factors promote R-loop-induced genome instability.

  2014cited by this paper
• Functional and molecular defects of hiPSC-derived neurons from patients with ATM deficiency

  2014influential reference
• Avoidance of ribonucleotide-induced mutations by RNase H2 and Srs2-Exo1 mechanisms

  2014cited by this paper
• Structural insights into NHEJ: building up an integrated picture of the dynamic DSB repair super complex, one component and interaction at a time.

  2014cited by this paper
• TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

  2014cited by this paper
• Mobile DNA elements in the generation of diversity and complexity in the brain

  2014cited by this paper
• A double-edged sword: R loops as threats to genome integrity and powerful regulators of gene expression

  2014cited by this paper
• Aberrant Topoisomerase-1-DNA Lesions are Pathogenic in Neurodegenerative Genome Instability Syndromes

  2014cited by this paper
• Out of Balance: R-loops in Human Disease

  2014cited by this paper
• Transcription-Associated R-Loop Formation across the Human FMR1 CGG-Repeat Region

  2014cited by this paper
• R-Loops in Proliferating Cells but Not in the Brain: Implications for AOA2 and Other Autosomal Recessive Ataxias

  2014cited by this paper
• The causes of replication stress and their consequences on genome stability and cell fate.

  2014cited by this paper
• ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects.

  2014cited by this paper
• BRCA2 prevents R-loop accumulation and associates with TREX-2 mRNA export factor PCID2

  2014cited by this paper
• TopBP1: A BRCT-scaffold protein functioning in multiple cellular pathways.

  2014cited by this paper
• Human Apurinic/Apyrimidinic Endonuclease 1

  2014cited by this paper
• Tdp2: A Means to Fixing the Ends

  2013cited by this paper
• ATM Deficiency Results in Accumulation of DNA-Topoisomerase I Covalent Intermediates in Neural Cells

  2013influential reference
• Mechanisms of programmed DNA lesions and genomic instability in the immune system.

  2013cited by this paper
• Topoisomerase 1-mediated removal of ribonucleotides from nascent leading-strand DNA.

  2013cited by this paper
• Chromatin remodeling at DNA double-strand breaks.

  2013cited by this paper
• Ribonucleotides Misincorporated into DNA Act as Strand-Discrimination Signals in Eukaryotic Mismatch Repair

  2013cited by this paper
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  2013cited by this paper
• Base excision repair.

  2013cited by this paper
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  2013cited by this paper
• Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity

  2013cited by this paper
• Ribonucleotides are signals for mismatch repair of leading-strand replication errors.

  2013cited by this paper
• Maintaining genome stability in the nervous system

  2013cited by this paper
• Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations

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• Causes and consequences of replication stress

  2013cited by this paper
• Mammalian Base Excision Repair: the Forgotten Archangel

  2013influential reference
• RNase H2 roles in genome integrity revealed by unlinking its activities

  2013cited by this paper
• The ATM protein kinase: regulating the cellular response to genotoxic stress, and more

  2013influential reference
• DNA damage sensing by the ATM and ATR kinases.

  2013cited by this paper
• Topoisomerases facilitate transcription of long genes linked to autism

  2013cited by this paper
• Repair of strand breaks by homologous recombination.

  2013cited by this paper
• Nucleotide excision repair in eukaryotes.

  2013cited by this paper
• Mosaic Copy Number Variation in Human Neurons

  2013cited by this paper

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• Interneuron migration impairment and brain region-specific DNA damage response following irradiation during early neurogenesis in mice

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• How do neurons live long and healthy? The mechanism of neuronal genome integrity

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• Transcription‐coupled repair: tangled up in convoluted repair

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• The many connections of UFMylation with Alzheimer’s disease: a comprehensive review

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  2024cites this paper
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• Introducing the Role of Genotoxicity in Neurodegenerative Diseases and Neuropsychiatric Disorders

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• Novel Techniques for Mapping DNA Damage and Repair in the Brain

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• Loss of Adaptive DNA Breaks in Alzheimer’s Disease Brains

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• Developmental signals control chromosome segregation fidelity during pluripotency and neurogenesis by modulating replicative stress

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  2023influential citation
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  2023cites this paper
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  2023cites this paper
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  2023cites this paper
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  2023cites this paper
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  2022influential citation
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