The role of double-strand break repair — insights from human genetics (Q22122018)

Dimensions Publication ID

Dimensions

6 February 2023

Penny A. Jeggo

2

Penny A.

Jeggo

1 reference

Dimensions Publication ID

Dimensions

1026705858

Oxidative damage to DNA: formation, measurement and biochemical features.

6 February 2023

language of work or name

English

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publication date

January 2006

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published in

Nature Reviews Genetics

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volume

7

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issue

1

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page(s)

45-54

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cites work

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AID is required to initiate Nbs1/gamma-H2AX focus formation and mutations at sites of class switching

31 March 2020

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A DNA damage checkpoint response in telomere-initiated senescence

31 March 2020

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Functional links between telomeres and proteins of the DNA-damage response

31 March 2020

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Sensing and repairing DNA double-strand breaks

31 March 2020

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A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci.

31 March 2020

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ATM is required for the cellular response to thymidine induced replication fork stress.

31 March 2020

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ATR affecting cell radiosensitivity is dependent on homologous recombination repair but independent of nonhomologous end joining

31 March 2020

1 reference

The cellular response to DNA double-strand breaks: defining the sensors and mediators

31 March 2020

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Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage

31 March 2020

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ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation

31 March 2020

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H2AX: the histone guardian of the genome

31 March 2020

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A critical role for histone H2AX in recruitment of repair factors to nuclear foci after DNA damage

31 March 2020

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Methylated lysine 79 of histone H3 targets 53BP1 to DNA double-strand breaks

31 March 2020

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53BP1, an activator of ATM in response to DNA damage

31 March 2020

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DNA damage-induced G2-M checkpoint activation by histone H2AX and 53BP1

31 March 2020

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The Mre11 complex and ATM: a two-way functional interaction in recognising and signaling DNA double strand breaks

31 March 2020

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Mammalian cell cycle checkpoints: signalling pathways and their organization in space and time

31 March 2020

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An ATR- and Cdc7-dependent DNA damage checkpoint that inhibits initiation of DNA replication

31 March 2020

1 reference

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

31 March 2020

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A role for ATR in the DNA damage-induced phosphorylation of p53

31 March 2020

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Overexpression of a kinase-inactive ATR protein causes sensitivity to DNA-damaging agents and defects in cell cycle checkpoints

31 March 2020

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Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway.

31 March 2020

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ATR homolog Mec1 promotes fork progression, thus averting breaks in replication slow zones.

31 March 2020

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Checkpoint-mediated control of replisome–fork association and signalling in response to replication pausing

31 March 2020

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Repair of double-strand DNA breaks by the human nonhomologous DNA end joining pathway: the iterative processing model

31 March 2020

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Mammalian Ku86 mediates chromosomal fusions and apoptosis caused by critically short telomeres

31 March 2020

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Shorter telomeres, accelerated ageing and increased lymphoma in DNA-PKcs-deficient mice

31 March 2020

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Molecular views of recombination proteins and their control

31 March 2020

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Insights into DNA recombination from the structure of a RAD51-BRCA2 complex

31 March 2020

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ATR Regulates Fragile Site Stability

31 March 2020

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Homologous recombinational repair of DNA ensures mammalian chromosome stability

31 March 2020

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DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency

31 March 2020

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Harmonising the response to DSBs: a new string in the ATM bow.

31 March 2020

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A double-strand break repair defect in ATM-deficient cells contributes to radiosensitivity

31 March 2020

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Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

31 March 2020

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Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination

31 March 2020

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Genomic instability in mice lacking histone H2AX

31 March 2020

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p53 Binding protein 53BP1 is required for DNA damage responses and tumor suppression in mice

31 March 2020

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Artemis is a phosphorylation target of ATM and ATR and is involved in the G2/M DNA damage checkpoint response

31 March 2020

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Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

31 March 2020

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Cancer susceptibility and the functions of BRCA1 and BRCA2

31 March 2020

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Biallelic inactivation of BRCA2 in Fanconi anemia

31 March 2020

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The interplay of Fanconi anemia proteins in the DNA damage response

31 March 2020

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Unraveling the Fanconi anemia-DNA repair connection

31 March 2020

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The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

31 March 2020

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The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia

31 March 2020

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Interaction of FANCD2 and NBS1 in the DNA damage response

31 March 2020

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Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways

31 March 2020

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The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

31 March 2020

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Nbs1 is required for ATR-dependent phosphorylation events

31 March 2020

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The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.

31 March 2020

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The DNA crosslink-induced S-phase checkpoint depends on ATR-CHK1 and ATR-NBS1-FANCD2 pathways

31 March 2020

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ATR couples FANCD2 monoubiquitination to the DNA-damage response

31 March 2020

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Immunological disorders and DNA repair

31 March 2020

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Impairment of V(D)J recombination in double-strand break repair mutants

31 March 2020

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Requirement for Ku80 in growth and immunoglobulin V(D)J recombination

31 March 2020

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Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient

31 March 2020

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Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms

31 March 2020

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Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

31 March 2020

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Omenn syndrome due to ARTEMIS mutations

31 March 2020

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Partial V(D)J recombination activity leads to Omenn syndrome

31 March 2020

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ATM is required for efficient recombination between immunoglobulin switch regions

31 March 2020

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Immunoglobulin class switch recombination is impaired in Atm-deficient mice

31 March 2020

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Delineation of the role of the Mre11 complex in class switch recombination

31 March 2020

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ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region

31 March 2020

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Genomic instability, endoreduplication, and diminished Ig class-switch recombination in B cells lacking Nbs1.

31 March 2020

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The DNA double-strand break response in the nervous system

31 March 2020

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Ataxia telangiectasia mutated-dependent apoptosis after genotoxic stress in the developing nervous system is determined by cellular differentiation status.

31 March 2020

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Requirement for Atm in ionizing radiation-induced cell death in the developing central nervous system

31 March 2020

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Oxygen metabolism causes chromosome breaks and is associated with the neuronal apoptosis observed in DNA double-strand break repair mutants

31 March 2020

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Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1

31 March 2020

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The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4

31 March 2020

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Dysfunctional mammalian telomeres join with DNA double-strand breaks

31 March 2020

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Acute myeloid leukaemia in a patient with Seckel syndrome

31 March 2020

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Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?

31 March 2020

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Accelerated telomere shortening in ataxia telangiectasia

31 March 2020

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Telomere dysfunction and Atm deficiency compromises organ homeostasis and accelerates ageing

31 March 2020

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ATM function and telomere stability

31 March 2020

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Ataxia-telangiectasia: chronic activation of damage-responsive functions is reduced by alpha-lipoic acid

31 March 2020

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Role of human Ku86 in telomere length maintenance and telomere capping

31 March 2020

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Bone marrow transplantation for Nijmegan breakage syndrome

31 March 2020

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A DNA insertion/deletion necessitates an aberrant RNA splice accounting for a mu heavy chain disease protein

31 March 2020

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Four radiation hypersensitivity cases and their implications for clinical radiotherapy

31 March 2020

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Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons

31 March 2020

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Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy

31 March 2020

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Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase

31 March 2020

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Potentiation of DNA-damage-induced cytotoxicity by G2 checkpoint abrogators

31 March 2020

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Pathways for mitotic homologous recombination in mammalian cells

31 March 2020

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The role of the DNA double-strand break response network in meiosis

31 March 2020

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Ku80: product of the XRCC5 gene and its role in DNA repair and V(D)J recombination

31 March 2020

1 reference

The SCID mouse mutant: definition, characterization, and potential uses

31 March 2020

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Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation.

31 March 2020

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Components of the Ku-dependent non-homologous end-joining pathway are involved in telomeric length maintenance and telomeric silencing

31 March 2020

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The mammalian XRCC genes: their roles in DNA repair and genetic stability

31 March 2020

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The XRCC genes: expanding roles in DNA double-strand break repair

31 March 2020

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Xrcc2 is required for genetic stability, embryonic neurogenesis and viability in mice

31 March 2020

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Homologous recombination and non-homologous end-joining pathways of DNA double-strand break repair have overlapping roles in the maintenance of chromosomal integrity in vertebrate cells

31 March 2020

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A single ataxia telangiectasia gene with a product similar to PI-3 kinase

31 March 2020

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The DNA damage response: putting checkpoints in perspective

31 March 2020

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DNA structure checkpoint pathways in Schizosaccharomyces pombe

31 March 2020

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ATR-mediated checkpoint pathways regulate phosphorylation and activation of human Chk1

31 March 2020

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A DNA damage response pathway controlled by Tel1 and the Mre11 complex

31 March 2020

1 reference