The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models.

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The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models. is …
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scholarly articleQ13442814

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P356DOI10.1016/S0065-2776(05)87007-5
P698PubMed publication ID16102576

P50authorPatrick RevyQ44556029
Jean-Pierre de VillartayQ29840762
P2093author name stringDietke Buck
Françoise le Deist
P2860cites workActivation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)Q24290325
The interaction of DNA mismatch repair proteins with human exonuclease IQ24291370
Crystal structure of an Xrcc4-DNA ligase IV complexQ24291890
Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombinationQ24294409
MDC1 is a mediator of the mammalian DNA damage checkpointQ24296229
Activation-induced cytidine deaminase shuttles between nucleus and cytoplasm like apolipoprotein B mRNA editing catalytic polypeptide 1Q24307678
NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domainQ24316234
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndromeQ24316811
The hMre11/hRad50 Protein Complex and Nijmegen Breakage Syndrome: Linkage of Double-Strand Break Repair to the Cellular DNA Damage ResponseQ24316950
Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cellsQ24320116
Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IVQ24323238
Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP familyQ24538351
The cellular response to DNA double-strand breaks: defining the sensors and mediatorsQ63383934
Double-strand signal sequence breaks in V(D)J recombination are blunt, 5'-phosphorylated, RAG-dependent, and cell cycle regulatedQ64389767
V(D)J recombination: broken DNA molecules with covalently sealed (hairpin) coding ends in scid mouse thymocytesQ67521111
On the nature of a defect in cells from individuals with ataxia-telangiectasiaQ70065595
Genomic Organization of the ATM geneQ71139418
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndromeQ72068543
V(D)J recombination and ataxia-telangiectasia: a reviewQ72468470
Radiosensitivity in ataxia-telangiectasia: anomalies in radiation-induced cell cycle delayQ72670297
Ig gene somatic hypermutation in mice defective for DNA polymerase delta proofreadingQ73188841
Mortality rates among carriers of ataxia-telangiectasia mutant allelesQ73208768
The influence of transcriptional orientation on endogenous switch region functionQ73224719
V(D)J Recombination in Ku86-Deficient Mice: Distinct Effects on Coding, Signal, and Hybrid Joint FormationQ73574910
Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiencyQ73803094
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patientsQ73806937
ATAXIA-TELANGIECTASIA. ITS ASSOCIATION WITH A DEFECTIVE THYMUS, IMMUNOLOGICAL-DEFICIENCY DISEASE, AND MALIGNANCYQ76773624
VDJ recombination: a transposase goes to workQ77198189
A Targeted DNA-PKcs-Null Mutation Reveals DNA-PK-Independent Functions for KU in V(D)J RecombinationQ77398644
Cutting edge: DNA polymerases mu and lambda are dispensable for Ig gene hypermutationQ77892518
Cell-cycle-dependent and ATM-independent expression of human Chk1 kinaseQ77954362
IgH class switch recombination to IgG1 in DNA-PKcs-deficient B cellsQ77995587
Alternative end joining during switch recombination in patients with ataxia-telangiectasiaQ78022313
The Gene for Severe Combined Immunodeficiency Disease in Athabascan-Speaking Native Americans Is Located on Chromosome 10pQ24538682
A DNA Damage-Regulated BRCT-Containing Protein, TopBP1, Is Required for Cell SurvivalQ24540067
TRRAP-dependent and TRRAP-independent transcriptional activation by Myc family oncoproteinsQ24540114
Nonhomologous end joining and V(D)J recombination require an additional factorQ24554076
The essential cofactor TRRAP recruits the histone acetyltransferase hGCN5 to c-MycQ24554343
Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in ArtemisQ24554368
Functional and biochemical dissection of the structure-specific nuclease ARTEMISQ24564574
The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombinationQ24647735
Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombinationQ24672591
Essential and dispensable roles of ATR in cell cycle arrest and genome maintenanceQ24672646
Human activation-induced cytidine deaminase causes transcription-dependent, strand-biased C to U deaminationsQ24678876
Megabase chromatin domains involved in DNA double-strand breaks in vivoQ24680284
Activation-induced cytidine deaminase deaminates deoxycytidine on single-stranded DNA but requires the action of RNaseQ24683335
Phosphorylation of Artemis following irradiation-induced DNA damageQ27919664
Evidence that polyadenylation factor CPSF-73 is the mRNA 3' processing endonuclease.Q27932064
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorderQ28115238
DNA Double-stranded Breaks Induce Histone H2AX Phosphorylation on Serine 139Q28131715
Response to RAG-mediated VDJ cleavage by NBS1 and gamma-H2AXQ28139663
Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndromeQ28139861
Mammalian Chk2 is a downstream effector of the ATM-dependent DNA damage checkpoint pathwayQ28141324
A critical role for histone H2AX in recruitment of repair factors to nuclear foci after DNA damageQ28144576
ATM phosphorylates histone H2AX in response to DNA double-strand breaksQ28188651
Transcription enhances AID-mediated cytidine deamination by exposing single-stranded DNA on the nontemplate strandQ28190690
Transcription-targeted DNA deamination by the AID antibody diversification enzymeQ28190732
DNA polymerase eta is an A-T mutator in somatic hypermutation of immunoglobulin variable genesQ28190856
Accumulation of Checkpoint Protein 53BP1 at DNA Breaks Involves Its Binding to Phosphorylated Histone H2AXQ28191330
Analysis of the V(D)J recombination efficiency at lymphoid chromosomal translocation breakpointsQ28199398
Histone H2AX Is Phosphorylated in an ATR-dependent Manner in Response to Replicational StressQ28201846
The role of polymerase eta in somatic hypermutation determined by analysis of mutations in a patient with xeroderma pigmentosum variantQ28203111
NFBD1, like 53BP1, is an early and redundant transducer mediating Chk2 phosphorylation in response to DNA damageQ28205262
NFBD1/MDC1 regulates ionizing radiation-induced focus formation by DNA checkpoint signaling and repair factorsQ28205931
DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociationQ28206029
Targeted disruption of NBS1 reveals its roles in mouse development and DNA repairQ28206244
Histone H2A variants H2AX and H2AZQ28207014
DNA double-strand breaks: prior to but not sufficient in targeting hypermutationQ42944715
Constitutive expression of AID leads to tumorigenesisQ42944928
Role of ATM in oxidative stress-mediated c-Jun phosphorylation in response to ionizing radiation and CdCl2.Q43559235
Bone marrow transplantation for T-B- severe combined immunodeficiency disease in Athabascan-speaking native AmericansQ43613019
Mismatch repair co-opted by hypermutation.Q43917262
Immunoglobulin isotype switching is inhibited and somatic hypermutation perturbed in UNG-deficient miceQ44194766
Critical roles of activation-induced cytidine deaminase in the homeostasis of gut floraQ44218058
Phosphorylation of histone H2AX and activation of Mre11, Rad50, and Nbs1 in response to replication-dependent DNA double-strand breaks induced by mammalian DNA topoisomerase I cleavage complexes.Q44378806
Processive AID-catalysed cytosine deamination on single-stranded DNA simulates somatic hypermutationQ44486460
The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch mu regionQ44555997
Gene-targeted mice lacking the Ung uracil-DNA glycosylase develop B-cell lymphomasQ44559497
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombinationQ44575368
Reduced switching in SCID B cells is associated with altered somatic mutation of recombined S regionsQ44684968
Transcription-coupled events associating with immunoglobulin switch region chromatinQ44699066
Staggered AID-dependent DNA double strand breaks are the predominant DNA lesions targeted to S mu in Ig class switch recombinationQ44811129
Distinct functional domains of Nbs1 modulate the timing and magnitude of ATM activation after low doses of ionizing radiationQ44817175
PMS2-deficiency diminishes hypermutation of a lambda1 transgene in young but not older miceQ44874917
AID is required for c-myc/IgH chromosome translocations in vivoQ45021537
Induction of RNA-stabilized DMA conformers by transcription of an immunoglobulin switch regionQ45110397
Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patientsQ45167817
Requirement for an Interaction of XRCC4 with DNA Ligase IV for Wild-type V(D)J Recombination and DNA Double-strand Break Repairin VivoQ46031860
Nuclear localization of Cdc25 is regulated by DNA damage and a 14-3-3 proteinQ46098415
DNA ligase IV binds to XRCC4 via a motif located between rather than within its BRCT domainsQ46835609
Delineation of the role of the Mre11 complex in class switch recombinationQ47237271
DNA transposition by the RAG1 and RAG2 proteins: a possible source of oncogenic translocationsQ47750695
RAG proteins shepherd double-strand breaks to a specific pathway, suppressing error-prone repair, but RAG nicking initiates homologous recombinationQ47765927
BRCA1 protein products ... Functional motifs...Q48062839
mRNA sequences define an unusually restricted IgG response to 2-phenyloxazolone and its early diversificationQ48397569
Cleavage at a V(D)J recombination signal requires only RAG1 and RAG2 proteins and occurs in two stepsQ49167454
Decreased immunoglobulin class switching in nijmegen breakage syndrome due to the DNA repair defectQ49167867
Healing the wounds inflicted by sleeping beauty transposition by double-strand break repair in mammalian somatic cellsQ51829783
Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in miceQ52542455
Unrepaired DNA breaks in p53-deficient cells lead to oncogenic gene amplification subsequent to translocationsQ53965557
CD40 Ligand Gene Defects Responsible for X-Linked Hyper-IgM SyndromeQ55670500
A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10pQ57131989
DNA Double-Strand Breaks in Immunoglobulin Genes Undergoing Somatic HypermutationQ57198273
Decreased Frequency of Somatic Hypermutation and Impaired Affinity Maturation but Intact Germinal Center Formation in Mice Expressing Antisense RNA to DNA PolymeraseQ58424602
Somatic hypermutation does not require Rad54 and Rad54B-mediated homologous recombinationQ58451213
CD40 ligand mutations in X-linked immunodeficiency with hyper-IgMQ58478788
The scid mutation in mice causes a general defect in DNA repairQ59073681
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgMQ59086599
CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonizationQ59548349
Induction by anti-CD40 antibody or soluble CD40 ligand and cytokines of IgG, IgA and IgE production by B cells from patients with X-linked hyper IgM syndromeQ59548368
Influence of severe combined immunodeficiency phenotype on the outcome of HLA non-identical, T-cell–depleted bone marrow transplantationA retrospective European survey from the European Group for Bone Marrow Transplantation and the European SocietyQ61714678
Lack of detectable defect in DNA double-strand break repair and DNA-dependent protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblastsQ61714693
DNA repair: The Nijmegen breakage syndrome proteinQ63362925
Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiencyQ33894252
Effect of HIV integrase inhibitors on the RAG1/2 recombinaseQ33896796
Partners and pathwaysrepairing a double-strand break.Q33927291
Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.Q33945446
Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivityQ33946410
Mutations ofCD40gene cause an autosomal recessive form of immunodeficiency with hyper IgMQ33947934
Variable deletion and duplication at recombination junction ends: Implication for staggered double-strand cleavage in class-switch recombinationQ33950143
p53 controls both the G2/M and the G1 cell cycle checkpoints and mediates reversible growth arrest in human fibroblastsQ33986335
DNA mismatch repair and genetic instabilityQ34090778
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiencyQ34108148
A murine model of Nijmegen breakage syndromeQ34124812
A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native AmericansQ34132594
53BP1, a mediator of the DNA damage checkpointQ34153067
Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.Q34156865
Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese familiesQ34178243
DNA-PK, ATM and ATR as sensors of DNA damage: variations on a theme?Q34180691
Chk1 mediates S and G2 arrests through Cdc25A degradation in response to DNA-damaging agentsQ34188494
R-loops at immunoglobulin class switch regions in the chromosomes of stimulated B cellsQ34188845
Direct activation of the ATM protein kinase by the Mre11/Rad50/Nbs1 complexQ34311086
Expansion of the zinc metallo-hydrolase family of the beta-lactamase foldQ34341856
Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphismsQ34343834
DNA double strand break repair and chromosomal translocation: lessons from animal modelsQ34405417
Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agentsQ34409945
Structure and function of mammalian DNA ligasesQ34463842
A recombinase diversified: new functions of the RAG proteinsQ34547234
A unified view of the DNA-damage checkpointQ34560932
Does artemis end the hunt for the hairpin-opening activity in V(D)J recombination?Q34602625
The mechanism and regulation of chromosomal V(D)J recombinationQ34619795
CD40-CD40L independent Ig gene hypermutation suggests a second B cell diversification pathway in humansQ34651496
V(D)J recombination: RAG proteins, repair factors, and regulationQ34667417
In vivo transposition mediated by V(D)J recombinase in human T lymphocytesQ34794778
De novo protein synthesis is required for the activation-induced cytidine deaminase function in class-switch recombinationQ34807643
Impact of DNA ligase IV on the fidelity of end joining in human cellsQ34966793
Sensing of intermediates in V(D)J recombination by ATM.Q35005088
Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stabilityQ35026390
Ku80 is required for addition of N nucleotides to V(D)J recombination junctions by terminal deoxynucleotidyl transferaseQ35079436
DNA double strand breaks (DSB) and non-homologous end joining (NHEJ) pathways in human leukemiaQ35105914
Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombinationQ35108519
Genetic heterogeneity for a Nijmegen breakage‐like syndromeQ35110142
Critical role for Atm in suppressing V(D)J recombination-driven thymic lymphomaQ35197081
Restraining the V(D)J recombinaseQ35219034
Human and animal models of V(D)J recombination deficiencyQ35538187
The V(D)J recombination activating gene, RAG-1.Q35633860
Human models of inherited immunoglobulin class switch recombination and somatic hypermutation defects (hyper-IgM syndromes).Q35671715
Recombinase-activating gene (RAG) 2-mediated V(D)J recombination is not essential for tumorigenesis in Atm-deficient miceQ35795447
AID: how does it aid antibody diversity?Q35800376
The DNA-dependent protein kinase: the director at the end.Q35830413
The DNA double-strand break response in the nervous systemQ35848537
Ataxia-telangiectasia, an evolving phenotypeQ35848556
Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basisQ35848561
In situ studies of the primary immune response to (4-hydroxy-3-nitrophenyl)acetyl. II. A common clonal origin for periarteriolar lymphoid sheath-associated foci and germinal centersQ36231790
The translesion DNA polymerase zeta plays a major role in Ig and bcl-6 somatic hypermutation.Q36248087
Requirement of the MRN complex for ATM activation by DNA damageQ36267304
AID mediates hypermutation by deaminating single stranded DNA.Q36370366
H2AX is required for recombination between immunoglobulin switch regions but not for intra-switch region recombination or somatic hypermutationQ36370913
DNA-dependent protein kinase activity is not required for immunoglobulin class switchingQ36371923
Evidence for replicative repair of DNA double-strand breaks leading to oncogenic translocation and gene amplificationQ36376595
DNA polymerase eta is involved in hypermutation occurring during immunoglobulin class switch recombination.Q36399002
Absence of DNA polymerase eta reveals targeting of C mutations on the nontranscribed strand in immunoglobulin switch regionsQ36399387
Somatic hypermutation is limited by CRM1-dependent nuclear export of activation-induced deaminaseQ36399510
Ku70 is required for late B cell development and immunoglobulin heavy chain class switchingQ36401127
A role for Msh6 but not Msh3 in somatic hypermutation and class switch recombinationQ36403922
A human severe combined immunodeficiency (SCID) condition with increased sensitivity to ionizing radiations and impaired V(D)J rearrangements defines a new DNA recombination/repair deficiencyQ36404053
scid cells are deficient in Ku and replication protein A phosphorylation by the DNA-dependent protein kinaseQ36555430
Artemis and p53 cooperate to suppress oncogenic N-myc amplification in progenitor B cells.Q36602126
Identification of a nonsense mutation in the carboxyl-terminal region of DNA-dependent protein kinase catalytic subunit in the scid mouseQ36820879
The SCID mouse mutant: definition, characterization, and potential usesQ37357870
AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversificationQ28208979
Normal V(D)J recombination in cells from patients with Nijmegen breakage syndromeQ28209736
MDC1 is required for the intra-S-phase DNA damage checkpointQ28212500
MDC1 is coupled to activated CHK2 in mammalian DNA damage response pathwaysQ28212514
NFBD1, a novel nuclear protein with signature motifs of FHA and BRCT, and an internal 41-amino acid repeat sequence, is an early participant in DNA damage responseQ28217141
Cancer-susceptibility genes. Gatekeepers and caretakersQ28236512
Molecular mechanisms of mammalian DNA repair and the DNA damage checkpointsQ28266170
The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombinationQ28272412
Assembly of a 12/23 Paired Signal Complex: A Critical Control Point in V(D)J RecombinationQ28275539
A new chromosomal instability disorder: the Nijmegen breakage syndromeQ28281429
RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombinationQ28289238
DNA-dependent kinase (p350) as a candidate gene for the murine SCID defectQ28307262
AID is required to initiate Nbs1/γ-H2AX focus formation and mutations at sites of class switchingQ28366125
Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IVQ28504490
Increased Hypermutation at G and C Nucleotides in Immunoglobulin Variable Genes from Mice Deficient in the MSH2 Mismatch Repair ProteinQ28505917
Targeted disruption of the catalytic subunit of the DNA-PK gene in mice confers severe combined immunodeficiency and radiosensitivityQ28506163
Hot Spot Focusing of Somatic Hypermutation in MSH2-Deficient Mice Suggests Two Stages of Mutational TargetingQ28506440
Hypermutation of immunoglobulin genes in memory B cells of DNA repair-deficient miceQ28507519
Rad51 expression and localization in B cells carrying out class switch recombinationQ28508346
Specific expression of activation-induced cytidine deaminase (AID), a novel member of the RNA-editing deaminase family in germinal center B cellsQ28509339
Somatic hypermutation in MutS homologue (MSH)3-, MSH6-, and MSH3/MSH6-deficient mice reveals a role for the MSH2-MSH6 heterodimer in modulating the base substitution patternQ28510640
Defective DNA repair and increased genomic instability in Artemis-deficient murine cellsQ28513655
Altered somatic hypermutation and reduced class-switch recombination in exonuclease 1-mutant miceQ28513971
Severe attenuation of the B cell immune response in Msh2-deficient miceQ28585021
Reduced isotype switching in splenic B cells from mice deficient in mismatch repair enzymesQ28585862
Msh2 ATPase activity is essential for somatic hypermutation at a-T basepairs and for efficient class switch recombinationQ28586272
129-derived strains of mice are deficient in DNA polymerase iota and have normal immunoglobulin hypermutationQ28587504
Genomic instability in mice lacking histone H2AXQ28589826
Examination of Msh6- and Msh3-deficient mice in class switching reveals overlapping and distinct roles of MutS homologues in antibody diversificationQ28589828
RAG-1-deficient mice have no mature B and T lymphocytesQ28592133
Leaky Scid phenotype associated with defective V(D)J coding end processing in Artemis-deficient miceQ28592390
Mice reconstituted with DNA polymerase beta-deficient fetal liver cells are able to mount a T cell-dependent immune response and mutate their Ig genes normallyQ28592782
RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangementQ28594711
scid mutation in mice confers hypersensitivity to ionizing radiation and a deficiency in DNA double-strand break repairQ37404182
A link between double-strand break-related repair and V(D)J recombination: the scid mutationQ37508055
De novo protein synthesis is required for activation-induced cytidine deaminase-dependent DNA cleavage in immunoglobulin class switch recombinationQ37512400
Speculations on ataxia-telangiectasia: defective regulation of the immunoglobulin gene superfamilyQ38729487
V(D)J-mediated translocations in lymphoid neoplasms: a functional assessment of genomic instability by cryptic sites.Q39017691
Structure of Nonhairpin Coding-End DNA Breaks in Cells Undergoing V(D)J RecombinationQ39631050
DNA-PK is activated by nucleosomes and phosphorylates H2AX within the nucleosomes in an acetylation-dependent mannerQ40315391
Uracil DNA glycosylase activity is dispensable for immunoglobulin class switchQ40522938
Activation-induced cytosine deaminase (AID) is actively exported out of the nucleus but retained by the induction of DNA breaksQ40566152
A non-B-DNA structure at the Bcl-2 major breakpoint region is cleaved by the RAG complexQ40582495
The DNA crosslink-induced S-phase checkpoint depends on ATR-CHK1 and ATR-NBS1-FANCD2 pathwaysQ40584861
Ablation of XRCC2/3 transforms immunoglobulin V gene conversion into somatic hypermutationQ40782991
Cell-cycle-regulated DNA double-stranded breaks in somatic hypermutation of immunoglobulin genesQ40840741
Transposition mediated by RAG1 and RAG2 and its implications for the evolution of the immune systemQ41011364
Ku70: a candidate tumor suppressor gene for murine T cell lymphomaQ41017020
RAG mutations in human B cell-negative SCID.Q41159572
An instance of clinical radiation morbidity and cellular radiosensitivity, not associated with ataxia-telangiectasiaQ41186496
Within germinal centers, isotype switching of immunoglobulin genes occurs after the onset of somatic mutationQ41224472
Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoireQ41505077
V(D)J recombination in mammalian cell mutants defective in DNA double-strand break repairQ41549015
Impairment of V(D)J recombination in double-strand break repair mutantsQ41560292
Oral and genital ulceration: a unique presentation of immunodeficiency in Athabascan-speaking American Indian children with severe combined immunodeficiencyQ41686285
Ataxia-telangiectasia: phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivityQ41744212
AID-dependent generation of resected double-strand DNA breaks and recruitment of Rad52/Rad51 in somatic hypermutationQ41771550
Ku80 is required for immunoglobulin isotype switchingQ41821763
Positional cloning of the gene for Nijmegen breakage syndromeQ41926361
Human immunoglobulin (Ig)M+IgD+ peripheral blood B cells expressing the CD27 cell surface antigen carry somatically mutated variable region genes: CD27 as a general marker for somatically mutated (memory) B cellsQ42108183
Germinal center founder cells display propensity for apoptosis before onset of somatic mutationQ42114332
Deficiency in Msh2 affects the efficiency and local sequence specificity of immunoglobulin class-switch recombination: parallels with somatic hypermutation.Q42676262
AID mutant analyses indicate requirement for class-switch-specific cofactorsQ42798287
DNA-PKcs: a T-cell tumour suppressor encoded at the mouse scid locusQ42833970
Somatic hypermutation in the absence of DNA-dependent protein kinase catalytic subunit (DNA-PK(cs)) or recombination-activating gene (RAG)1 activityQ42944177
The activation-induced deaminase functions in a postcleavage step of the somatic hypermutation processQ42944711
Altered spectra of hypermutation in antibodies from mice deficient for the DNA mismatch repair protein PMS2Q28910215
Mammalian G1- and S-phase checkpoints in response to DNA damageQ29013238
Severe combined immunodeficiencies (SCID)Q29042256
53BP1 is required for class switch recombinationQ29465541
53BP1 links DNA damage-response pathways to immunoglobulin heavy chain class-switch recombination.Q29465548
Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzymeQ29547201
ATM and related protein kinases: safeguarding genome integrityQ29547735
Somatic generation of antibody diversityQ29616439
From BRCA1 to RAP1: a widespread BRCT module closely associated with DNA repairQ29619880
Replication protein A interacts with AID to promote deamination of somatic hypermutation targetsQ31099047
DNA damage: Chk1 and Cdc25, more than meets the eye.Q31858938
Chk1 Kinase Negatively Regulates Mitotic Function of Cdc25A Phosphatase through 14-3-3 BindingQ33292076
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiencyQ33359560
Metallo-beta-lactamase: structure and mechanismQ33745008
Cellular origin of human B-cell lymphomas.Q33772424
Absence of DNA ligase IV protein in XR-1 cells: evidence for stabilization by XRCC4.Q33853314
Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patientQ33867168
P304page(s)237-295
P577publication date2005-01-01
P13046publication type of scholarly workreview articleQ7318358
P1433published inAdvances in ImmunologyQ15752932
P1476titleThe repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models
P478volume87

Reverse relations

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