Recombinant Human V (D)J recombination-activating protein 1, partial

1. Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium. PMID: 27609655
2. the ability of the RAG nuclease to minimize the risks of genome disruption by coupling the breakage and repair steps of the V(D)J reaction. This implies that the RAG genes, derived from an ancient transposon, have undergone strong selective pressure to prohibit transposition in favor of promoting controlled DNA end joining in cis by the ubiquitous DNA damage response and DNA repair machineries. PMID: 27863852
3. Leaky SCID can be caused by hypomorphic mutations in RAG1 and RAG2 that result in only partial loss of enzymatic function of the proteins respectively encoded by these genes. PMID: 28552805
4. We report two siblings with SCID and an atypical phenotype of osteopetrosis (OP). A biallelic microdeletion encompassing the 5' region of TRAF6, RAG1 and RAG2 genes was identified. TRAF6, a tumor necrosis factor receptor-associated family member, plays an important role in T cell signaling and in RANKL-dependent osteoclast differentiation and activation but its role in human OP has not been previously reported PMID: 27808398
5. The show that DNA damage caused by RAG1 activity in pre-B cells was able to downmodulate RAG1 expression and activity, confirming the existence of a negative feedback regulatory mechanism. PMID: 27559048
6. Our findings suggest that mutations in RAG1, specifically the p.R474C variant, can be associated with relatively mild clinical symptoms or delayed occurrence of T cell and B cell deficiencies but may predispose to progressive multifocal leukoencephalopathy. PMID: 28216420
7. This study compares T-cell development of patients with RAG1-dependent immune deficiencies, and elucidates important differences that help to explain the wide range of immunologic phenotypes that result from different mutations within the same gene of various patients. PMID: 27301863
8. Agammaglobulinemia associated to nasal polyposis due to a hypomorphic RAG1 mutation PMID: 27713031
9. Our results raise the prospect that RAG is a valuable biomarker in lymphoblastic leukaemia disease surveillance. PMID: 27198500
10. mutation c.256_257delAA in RAG1 gene seems to occur quite frequently in the Polish patients with severe combined immunodeficiency and may result in classical OS as well as in severe combined immunodeficiency without clinical and laboratory features of OS when occurred in homozygous state PMID: 28083621
11. most common mutation in East Slavs children with Omenn syndrome; associated with more favorable prognosis after hematopoietic stem cells transplantation PMID: 26596586
12. molecular and cellular mechanisms that account for the expanding range of clinical and immunological phenotypes of human RAG deficiency (review) PMID: 26996199
13. 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 PMID: 26689875
14. 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. PMID: 26234156
15. 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 PMID: 25849362
16. Expression of recombinase RAG-1 in diabetic patients was detected primarily in alphabetaTCR+CD40+ lymphocytes. PMID: 22803080
17. Bidirectional activity of the NWC promoter is responsible for RAG-2 transcription in non-lymphoid cells [NWC] PMID: 22984564
18. This study reports on the prevalence of RAG1 and RAG2 mutations in ten severe combined immunodeficiency disorder patients in Egypt. PMID: 25869295
19. compiled 751 genetic variants in human RAG1 gene using 1092 human genomes PMID: 25976673
20. analysis of regions of RAG1 necessary for interaction with RAG2 and measurement of the RAG1-RAG2 binding affinity PMID: 25745109
21. analysis of individual molecular events of RAG-mediated V(D)J DNA cleavage PMID: 25831509
22. 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. PMID: 25327637
23. A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency PMID: 24996264
24. Observations indicate that the RAG proteins exert fine control over every step of V(D)J cleavage. PMID: 24797073
25. PTEN microdeletions in T-cell acute lymphoblastic leukemia are caused by illegitimate RAG-mediated recombination events. PMID: 24904117
26. 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 PMID: 25135298
27. 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. PMID: 24472623
28. 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. PMID: 24290284
29. Whole exome sequencing reveals homozygous RAG1 mutations that expand the spectrum of combined immunodeficiency with autoimmunity and granuloma occurring with RAG1 deficiency. PMID: 24122031
30. Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes. PMID: 24418478
31. 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. PMID: 24666246
32. The cases presented here demonstrate that The clinical spectrum of RAG deficiency must expand to encompass early-onset autoimmunity with preserved B lymphocytes. PMID: 23891352
33. Case Report: a girl who developed severe BCGitis and vaccine-derived poliovirus infection was discovered to have a novel deletion of RAG1. PMID: 23755767
34. 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. PMID: 23630330
35. 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. PMID: 22891626
36. A dual interaction between the DNA damage response protein MDC1 and the RAG1 subunit of the V(D)J recombinase. PMID: 22942284
37. 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. PMID: 22424479
38. We report for the first time 3 children with Omenn syndrome in the Chinese population and identify 3 novel mutations in the RAG1 gene. PMID: 21771083
39. 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. PMID: 21624848
40. IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID. PMID: 21625022
41. 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. PMID: 21655267
42. RAG mutations are associated with Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease. PMID: 21502542
43. 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 PMID: 21481940
44. 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 PMID: 21131235
45. 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. PMID: 20956421
46. In a subset of acute lymphoblastic leukemia RAG might create one of the initiating double-strand breaks. PMID: 20703256
47. Hypomorphic Rag mutations can cause destructive midline granulomatous disease. PMID: 20489056
48. RAG1-mediated histone monoubiquitylation activity plays a role in regulating the joining phase of chromosomal V(D)J recombination. PMID: 20122409
49. RAG expression is up-regulated in peripheral IgD+ and VpreB+ B cells of patients with active SLE. PMID: 12115231
50. 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. PMID: 12145704

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HGNC: 9831

OMIM: 179615

KEGG: hsa:5896

STRING: 9606.ENSP00000299440

UniGene: Hs.538979