Property Summary

NCBI Gene PubMed Count 115
PubMed Score 1061.08
PubTator Score 451.83

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -3.830 6.6e-12

 GO Component (2)

Protein-protein Interaction (1)

Gene RIF (86)

PMID Text
26996199 molecular and cellular mechanisms that account for the expanding range of clinical and immunological phenotypes of human RAG deficiency (review)
26689875 study reported 4 patients with RAG1 deficiency: classic severe combined immune deficiency (SCID) was seen in 2 patients, Omenn syndrome was observed in 1 patient and atypical SCID was seen in one patient
26596586 most common mutation in East Slavs children with Omenn syndrome; associated with more favorable prognosis after hematopoietic stem cells transplantation
26234156 Study reports that RAG1 associates with chromatin at thousands of active promoters and enhancers in the genome of developing lymphocytes. The mouse and human genomes appear to have responded by reducing the abundance of "cryptic" recombination signals near RAG1 binding sites.
25976673 compiled 751 genetic variants in human RAG1 gene using 1092 human genomes
25869295 This study reports on the prevalence of RAG1 and RAG2 mutations in ten severe combined immunodeficiency disorder patients in Egypt.
25849362 These findings provide insight into the role of this poorly understood region of Rag1 and support the role of Rag1 in a post-cleavage stage of recombination
25831509 analysis of individual molecular events of RAG-mediated V(D)J DNA cleavage
25745109 analysis of regions of RAG1 necessary for interaction with RAG2 and measurement of the RAG1-RAG2 binding affinity
25327637 Investigate the factors that regulate RAG1 and RAG2 cleavage on non-B DNA structures. We find that RAG binding and cleavage on heteroduplex DNA is dependent on the length of the double-stranded flanking region.
25135298 direct Ddelta2-Jdelta1 rearrangements are prohibited by a B12/23 restriction and ordered TCR-delta gene assembly requires RUNX1 protein, which binds to the Ddelta2-23RSS, interacts with RAG1, and enhances RAG1 deposition at this site
24996264 A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency
24904117 PTEN microdeletions in T-cell acute lymphoblastic leukemia are caused by illegitimate RAG-mediated recombination events.
24797073 Observations indicate that the RAG proteins exert fine control over every step of V(D)J cleavage.
24666246 This is the first description of the co-existence of large amounts of clonal expanded autologous and transplacental-acquired maternal T cells in RAG1-deficient SCID.
24472623 The results indicate that the contribution of immune dysregulatory disease due to RAG1 mutations present in the general population may be much higher than previously estimated.
24418478 Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes.
24290284 we demonstrate correlation between recombination activity of RAG1 mutants and the severity of clinical presentation and show that RAG1 mutants can induce specific abnormalities of the VDJ recombination process.
24122031 Whole exome sequencing reveals homozygous RAG1 mutations that expand the spectrum of combined immunodeficiency with autoimmunity and granuloma occurring with RAG1 deficiency.
23891352 The cases presented here demonstrate that The clinical spectrum of RAG deficiency must expand to encompass early-onset autoimmunity with preserved B lymphocytes.
23755767 Case Report: a girl who developed severe BCGitis and vaccine-derived poliovirus infection was discovered to have a novel deletion of RAG1.
23716691 Data indicate that the recombination-activating gene 1 protein (RAG1) as a substrate of AMPK.
23630330 genetic association studies in population in China: Data suggest that SNPs in RAG1 (rs2227973, A>G, K820R) and LIG4 (DNA ligase IV, rs1805388, exon 2 54C>T, Thr9Ile) are associated with male infertility.
23438597 The major B cell isoform, BCL11A-XL, binds the RAG1 promoter and Erag enhancer to activate RAG1 and RAG2 transcription in pre-B cells.
22984564 Bidirectional activity of the NWC promoter is responsible for RAG-2 transcription in non-lymphoid cells [NWC]
22942284 A dual interaction between the DNA damage response protein MDC1 and the RAG1 subunit of the V(D)J recombinase.
22891626 Mutations to the sequence of the nonamer and deletion of the nonamer-binding domain of RAG1 reinforced the role of the nonamer in the enhancement in RAG cleavage.
22803080 Expression of recombinase RAG-1 in diabetic patients was detected primarily in alphabetaTCR+CD40+ lymphocytes.
22424479 Homozygous mutation of p.R394Q/p.R394Q and p.R776Q, 3047-3049 del GCC mutations are novel and they are causing serious T-B-NK + SCID.
21771083 We report for the first time 3 children with Omenn syndrome in the Chinese population and identify 3 novel mutations in the RAG1 gene.
21655267 The results indicate that in cancer cells E2A, FOXO1 and FOXP1 regulate RAG1 and RAG2 expression, which initiates Ig gene rearrangement much in the way similar to B lymphocytes.
21625022 IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID.
21624848 In the RAG1 gene we detected two novel mutations: L454Q and 469 fs-4bpdel. In the RAG 2 gene: 3 novel mutations: D65Y, G157V, and E480X. One T-B- SCID patient had a compound heterozygote for new mutations in the adenosine deaminase gene: W264X and R235W.
21502542 RAG mutations are associated with Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease.
21481940 study demonstrates that exogenous TCR alpha and beta chains transferred into the human immature RAG(+) T cell line Sup-T1 by lentiviral transduction inhibit RAG expression through tonic signaling
21131235 study reports 5 cases of RAG deficiency; genetic defects were heterogeneous and included 6 novel RAG mutations; all missense mutations except for Met443Ile in RAG2 were located in active core regions of RAG1 or RAG2
20956421 These disparate and atypical presentations of hypomorphic RAG1 mutations highlight the role of RAG1 in immune function and autoimmunity and expand the disease spectrum linked to these genes.
20813000 Meta-analysis of gene-disease association. (HuGE Navigator)
20800603 Observational study of gene-disease association. (HuGE Navigator)
20703256 In a subset of acute lymphoblastic leukemia RAG might create one of the initiating double-strand breaks.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20568250 Observational study of gene-disease association. (HuGE Navigator)
20489056 Hypomorphic Rag mutations can cause destructive midline granulomatous disease.
20453000 Observational study of gene-disease association. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
20122409 RAG1-mediated histone monoubiquitylation activity plays a role in regulating the joining phase of chromosomal V(D)J recombination.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19898481 Observational study of gene-disease association. (HuGE Navigator)
19859091 Observational study of genetic testing. (HuGE Navigator)
19773279 Observational study of gene-disease association. (HuGE Navigator)
19692168 Observational study of gene-disease association. (HuGE Navigator)
19625176 Observational study of gene-disease association. (HuGE Navigator)
19573080 Observational study of gene-disease association. (HuGE Navigator)
19458910 RAG1 mutations are associated with severe combined immunodeficiencies.
19404965 Two independent signals are required for the induction of RAG gene expression in B cells that infiltrate the synovium of patients with RA.
19359154 Studies in B and T lymphocytes demonstrate that the reduction in RAG expression at the immature B and double-positive (DP) T cell stages is mediated through tonic (foreign antigen independent) receptor signaling.
19170196 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19118899 Karyopherin alpha 1 is a putative substrate of the RAG1 ubiquitin ligase.
19116388 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19074885 Observational study of gene-disease association. (HuGE Navigator)
18830263 Observational study of gene-disease association. (HuGE Navigator)
18768869 RAG1 Arg972Qln mutation, located in the primary sequence near catalytic amino acid Glu962, is hypersensitive to certain coding flank sequences in a patient with Omenn syndrome.
18701881 Results indicate that the novel R776W missense mutation in RAG-1 is causal in the T(-)B(-)NK(+) severe combined immunodeficiency disease phenotype in Athabascan-speaking Dine Indians from the Canadian Northwest Territories
18676680 Observational study of gene-disease association. (HuGE Navigator)
18579371 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
18463379 We describe three girls with a primary immunodeficiency disease associated with hypomorphic mutations in one of the two recombinase activating genes (RAG1 and RAG2).
18089566 the RAG-7-mer interaction is a critical step for coding DNA distortion and hairpin formation in the context of the 12/23 rule.
17982069 IL-6 initiates the expression of RAG1 in circulating B cells, and extends those in tonsil B cells.
17890453 5 unrelated cases of combined immune deficiency due to hypomorphic RAG mutations, demonstrate the absence of invariant NKT cells
17307402 analysis of structure-specific nicking of small heteroduplexes by the RAG complex
17075247 Ths review focusses on the variation of inherited hypomorphic mutations of recombination activating genes either 1 or 2 (RAG1/2) that have been detected in most Omenn syndrome patients.
16857995 Observational study of gene-disease association. (HuGE Navigator)
16738334 novel RAG-1 mutation, E649A, that supports elevated cleavage activity in vitro by preferentially enhancing hairpin formation
16465622 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
16061569 Novel RAG1 mutation in a case of severe combined immunodeficiency. A novel homozygous thymine to cytosine substitution at nucleotide position 2686
15843554 Activated mature CD5-positive human tonsil B cells coexpress both RAG1 and RAG2 mRNA and protein, and display DNA cleavage resulting from their recombinase activity.
15295705 expressed in peripheral blood mononuclear cells (PBMCs) from 42% of patients with infectious mononucleosis but not from health control subjects.
15249552 RAG1 and RAG2 interact with recombination signal sequence DNA in the coding region in pre-and post-cleavage type synaptic complexes
14726805 Meta-analysis and HuGE review of genotype prevalence, gene-disease association, genetic testing, and healthcare-related. (HuGE Navigator)
14624253 Erk and Abl kinases suppress RAG-1 and -2 gene expression through T cell receptor-independent basal signaling
14500629 RAG1 mRNA splice forms have been identified that are expressed in immature T cells (CD2+CD7+CD3-) of the jejunal mucosa, both intraepithelially and in lamina propria.
12757263 Data show that a mature nonmalignant human B cell clone producing IgMlambda-ICA can express RAG-1/RAG-2 transcripts
12355431 RAG1 expression and non-functional TCR rearrangements continuously take place in peripheral mature T cells of all activation/differentiation stages
12200379 B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG1 and RAG2 proteins.
12145704 Multiple PCR-SSCP analysisof RAG-1 showed shifted bands in 5 cases: Philadelphia-positive ALL, MLL, FL, and AML. An A-to-G SNP at 2571 was found.
12115231 RAG expression is up-regulated in peripheral IgD+ and VpreB+ B cells of patients with active SLE.

AA Sequence

MAASFPPTLGLSSAPDEIQHPHIKFSEWKFKLFRVRSFEKTPEEAQKEKKDSFEGKPSLEQSPAVLDKAD      1 - 70
GQKPVPTQPLLKAHPKFSKKFHDNEKARGKAIHQANLRHLCRICGNSFRADEHNRRYPVHGPVDGKTLGL     71 - 140
LRKKEKRATSWPDLIAKVFRIDVKADVDSIHPTEFCHNCWSIMHRKFSSAPCEVYFPRNVTMEWHPHTPS    141 - 210
CDICNTARRGLKRKSLQPNLQLSKKLKTVLDQARQARQHKRRAQARISSKDVMKKIANCSKIHLSTKLLA    211 - 280
VDFPEHFVKSISCQICEHILADPVETNCKHVFCRVCILRCLKVMGSYCPSCRYPCFPTDLESPVKSFLSV    281 - 350
LNSLMVKCPAKECNEEVSLEKYNHHISSHKESKEIFVHINKGGRPRQHLLSLTRRAQKHRLRELKLQVKA    351 - 420
FADKEEGGDVKSVCMTLFLLALRARNEHRQADELEAIMQGKGSGLQPAVCLAIRVNTFLSCSQYHKMYRT    421 - 490
VKAITGRQIFQPLHALRNAEKVLLPGYHHFEWQPPLKNVSSSTDVGIIDGLSGLSSSVDDYPVDTIAKRF    491 - 560
RYDSALVSALMDMEEDILEGMRSQDLDDYLNGPFTVVVKESCDGMGDVSEKHGSGPVVPEKAVRFSFTIM    561 - 630
KITIAHSSQNVKVFEEAKPNSELCCKPLCLMLADESDHETLTAILSPLIAEREAMKSSELMLELGGILRT    631 - 700
FKFIFRGTGYDEKLVREVEGLEASGSVYICTLCDATRLEASQNLVFHSITRSHAENLERYEVWRSNPYHE    701 - 770
SVEELRDRVKGVSAKPFIETVPSIDALHCDIGNAAEFYKIFQLEIGEVYKNPNASKEERKRWQATLDKHL    771 - 840
RKKMNLKPIMRMNGNFARKLMTKETVDAVCELIPSEERHEALRELMDLYLKMKPVWRSSCPAKECPESLC    841 - 910
QYSFNSQRFAELLSTKFKYRYEGKITNYFHKTLAHVPEIIERDGSIGAWASEGNESGNKLFRRFRKMNAR    911 - 980
QSKCYEMEDVLKHHWLYTSKYLQKFMNAHNALKTSGFTMNPQASLGDPLGIEDSLESQDSMEF           981 - 1043
//

Text Mined References (118)

PMID Year Title
26996199 2016 Human RAG mutations: biochemistry and clinical implications.
26689875 2015 Three faces of recombination activating gene 1 (RAG1) mutations.
26596586 2016 Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).
26234156 2015 RAG Represents a Widespread Threat to the Lymphocyte Genome.
25976673 2015 Understanding V(D)J recombination initiator RAG1 gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance.
25869295 2015 Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.
25849362 2015 Compound heterozygous mutation of Rag1 leading to Omenn syndrome.
25831509 2015 Single-molecule analysis of RAG-mediated V(D)J DNA cleavage.
25745109 2015 Mapping and Quantitation of the Interaction between the Recombination Activating Gene Proteins RAG1 and RAG2.
25327637 2015 Structure-specific nuclease activity of RAGs is modulated by sequence, length and phase position of flanking double-stranded DNA.
25135298 2014 RUNX1-dependent RAG1 deposition instigates human TCR-? locus rearrangement.
24996264 2014 A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.
24904117 2014 PTEN microdeletions in T-cell acute lymphoblastic leukemia are caused by illegitimate RAG-mediated recombination events.
24797073 2014 Synapsis alters RAG-mediated nicking at Tcrb recombination signal sequences: implications for the “beyond 12/23” rule.
24666246 2014 Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency.
24472623 2014 Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations.
24418478 2014 Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes.
24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.
24290284 2014 A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
24122031 2013 Exome sequencing reveals RAG1 mutations in a child with autoimmunity and sterile chronic multifocal osteomyelitis evolving into disseminated granulomatous disease.
23891352 2013 Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity.
23755767 Bcgitis and vaccine-derived poliovirus infection in a patient with a novel deletion in RAG1 binding site.
23716691 2013 Metabolic sensor AMPK directly phosphorylates RAG1 protein and regulates V(D)J recombination.
23630330 2013 Polymorphisms in double-strand breaks repair genes are associated with impaired fertility in Chinese population.
23438597 2013 The BCL11A transcription factor directly activates RAG gene expression and V(D)J recombination.
22984564 2012 Bidirectional activity of the NWC promoter is responsible for RAG-2 transcription in non-lymphoid cells.
22942284 2012 A dual interaction between the DNA damage response protein MDC1 and the RAG1 subunit of the V(D)J recombinase.
22891626 2012 A non-B DNA can replace heptamer of V(D)J recombination when present along with a nonamer: implications in chromosomal translocations and cancer.
22803080 2012 Role of CD40-dependent signal in induction of recombinase RAG-1 expression in peripheral T cells of patients with autoimmune diabetes mellitus.
22424479 2012 Novel mutat?ons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.
21771083 2011 Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.
21655267 2011 Transcription factors E2A, FOXO1 and FOXP1 regulate recombination activating gene expression in cancer cells.
21625022 2011 IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID.
21624848 2011 Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
21502542 2011 Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations.
21481940 2011 TCR transfer induces TCR-mediated tonic inhibition of RAG genes in human T cells.
21131235 2011 Analysis of mutations and recombination activity in RAG-deficient patients.
20956421 2010 Highly variable clinical phenotypes of hypomorphic RAG1 mutations.
20813000 2010 Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma in a pooled analysis of three studies.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20703256 2010 Analysis of genomic breakpoints in p190 and p210 BCR-ABL indicate distinct mechanisms of formation.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20568250 2010 Common single nucleotide polymorphisms in immunoregulatory genes and multiple myeloma risk among women in Connecticut.
20489056 2010 Hypomorphic Rag mutations can cause destructive midline granulomatous disease.
20453000 2010 A Large-scale genetic association study of esophageal adenocarcinoma risk.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20122409 2010 The RING domain of RAG1 ubiquitylates histone H3: a novel activity in chromatin-mediated regulation of V(D)J joining.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19912631 2009 Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.
19898481 2009 Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk.
19859091 2009 Customised molecular diagnosis of primary immune deficiency disorders in New Zealand: an efficient strategy for a small developed country.
19773279 2009 Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
19692168 2010 Genetic susceptibility to distinct bladder cancer subphenotypes.
19625176 2009 PTEN identified as important risk factor of chronic obstructive pulmonary disease.
19573080 2009 Common genetic variants in candidate genes and risk of familial lymphoid malignancies.
19458910 2009 Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.
19404965 2009 Transmembrane BAFF from rheumatoid synoviocytes requires interleukin-6 to induce the expression of recombination-activating gene in B lymphocytes.
19359154 2009 Mechanisms controlling expression of the RAG locus during lymphocyte development.
19170196 2009 Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
19118899 2009 Karyopherin alpha 1 is a putative substrate of the RAG1 ubiquitin ligase.
19116388 2009 A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility.
19074885 2008 Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.
18830263 2009 Polymorphisms in DNA repair and one-carbon metabolism genes and overall survival in diffuse large B-cell lymphoma and follicular lymphoma.
18768869 2008 A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction.
18701881 2009 A novel missense RAG-1 mutation results in T-B-NK+ SCID in Athabascan-speaking Dine Indians from the Canadian Northwest Territories.
18676680 2008 Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.
18579371 2008 Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.
18463379 2008 An immunodeficiency disease with RAG mutations and granulomas.
18089566 2008 RAG-heptamer interaction in the synaptic complex is a crucial biochemical checkpoint for the 12/23 recombination rule.
17982069 2007 IL-6 contributes to the expression of RAGs in human mature B cells.
17890453 2008 Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17307402 2007 The structure-specific nicking of small heteroduplexes by the RAG complex: implications for lymphoid chromosomal translocations.
17075247 2006 Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.
16857995 2006 Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
16738334 2006 Identification and characterization of a gain-of-function RAG-1 mutant.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16465622 2006 Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
16276422 2005 A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
16061569 2005 Novel RAG1 mutation in a case of severe combined immunodeficiency.
15843554 2005 Expression of RAGs in peripheral B cells outside germinal centers is associated with the expression of CD5.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15295705 2004 Peripheral blood lymphocytes express recombination-activating genes 1 and 2 during Epstein-Barr virus-induced infectious mononucleosis.
15249552 2004 Joining mutants of RAG1 and RAG2 that demonstrate impaired interactions with the coding-end DNA.
14726805 Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review.
14670978 2004 Amino acid residues in RAG1 responsible for the interaction with RAG2 during the V(D)J recombination process.
14624253 2003 T cell receptor-independent basal signaling via Erk and Abl kinases suppresses RAG gene expression.
14500629 2003 Extrathymic TCR gene rearrangement in human small intestine: identification of new splice forms of recombination activating gene-1 mRNA with selective tissue expression.
12861017 2003 Overlapping signals for protein degradation and nuclear localization define a role for intrinsic RAG-2 nuclear uptake in dividing cells.
12853125 2003 Inhibitory actions of genistein in human breast cancer (MCF-7) cells.
12757263 2003 Transcript expression of two Iglambda rearrangements and RAG-1/RAG-2 in a mature human B cell producing IgMlambda islet cell autoantibody.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12355431 2002 Continued expression of recombination-activating genes and TCR gene recombination in human peripheral T cells.
12244173 2002 Lymphoid enhancer-binding factor-1 binds and activates the recombination-activating gene-2 promoter together with c-Myb and Pax-5 in immature B cells.
12200379 2002 The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.
12145704 2002 Sequence conservation of RAG-1 and RAG-2 genes in hematologic malignancies.
12115231 2002 Expression of recombination activating genes 1 and 2 in peripheral B cells of patients with systemic lupus erythematosus.
11313270 2001 Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.
11214319 2001 Molecular phylogenetics and the origins of placental mammals.
11133745 2001 V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
11121059 2000 N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.
10891452 2000 N-terminal truncated human RAG1 proteins can direct T-cell receptor but not immunoglobulin gene rearrangements.
10701853 2000 Prenatal diagnosis of RAG-deficient Omenn syndrome.
10606976 2000 Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.
10490593 1999 The RAG1 homeodomain recruits HMG1 and HMG2 to facilitate recombination signal sequence binding and to enhance the intrinsic DNA-bending activity of RAG1-RAG2.
9885222 1999 Functional role of interleukin-4 (IL-4) and IL-7 in the development of X-linked severe combined immunodeficiency.
9630231 1998 Partial V(D)J recombination activity leads to Omenn syndrome.
9394797 1997 In vitro cell death of activated lymphocytes in Omenn's syndrome.
9379036 1997 Cloning and characterization of the human recombination activating gene 1 (RAG1) and RAG2 promoter regions.
9036966 1997 Definition of a large region of RAG1 that is important for coimmunoprecipitation of RAG2.
8844221 1996 Two new variants of RAG-1 protein predicted by SSCP.
8810255 1996 RAG mutations in human B cell-negative SCID.
8777717 1995 Localization, interaction, and RNA binding properties of the V(D)J recombination-activating proteins RAG1 and RAG2.
8052633 1994 RAG-1 interacts with the repeated amino acid motif of the human homologue of the yeast protein SRP1.
8016130 1994 Rch1, a protein that specifically interacts with the RAG-1 recombination-activating protein.
2598259 1989 The V(D)J recombination activating gene, RAG-1.
1612612 1992 Assignment of the human recombination activating gene 1 (RAG1) to the 14q21.3-q22.2 region.
1283330 1992 Human RAG2, like RAG1, is on chromosome 11 band p13 and therefore not linked to ataxia telangiectasia complementation groups.