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Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.
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Mutation of serine 365 to alanine permits bi-allelic and bi-locus RAG-mediated breaks in the same cell, leading to reciprocal translocations.
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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
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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
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The show that DNA damage caused by RAG2 activity in pre-B cells was able to downmodulate RAG2 expression and activity, confirming the existence of a negative feedback regulatory mechanism.
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molecular and cellular mechanisms that account for the expanding range of clinical and immunological phenotypes of human RAG deficiency (review)
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gene deficiency results in late onset autoimmune hemolytic anemia
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This study reports on the prevalence of RAG1 and RAG2 mutations in ten severe combined immunodeficiency disorder patients in Egypt.
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analysis of regions of RAG1 necessary for interaction with RAG2 and measurement of the RAG1-RAG2 binding affinity
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DNA damage triggers relocalization of RAG2 from the nucleus to centrosomes, suggesting a novel mechanism for modulating cellular responses to double strand breaks in developing lymphocytes.
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analysis of individual molecular events of RAG-mediated V(D)J DNA cleavage
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found that Ikaros, a lymphocyte-specific transcription factor, acts as a repressor of NWC promoter--thus identifying a new Ikaros target--but is insufficient for inducing methylation which depends on the antisense transcription driven by RAG-2 promoter
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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.
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Observations indicate that the RAG proteins exert fine control over every step of V(D)J cleavage.
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The results indicate that the contribution of immune dysregulatory disease due to RAG2 mutations present in the general population may be much higher than previously estimated.
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Bidirectional activity of the NWC promoter is responsible for RAG-2 transcription in non-lymphoid cells
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A novel homozygous mutation with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome
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analysis of multiorgan metastasis of human HER-2+ breast cancer in Rag2-/-;Il2rg-/- mice and treatment with PI3K inhibitor
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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.
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USF-1 but not USF-2 is strongly enriched at Dbeta2 in chromatin from either Rag2-/- deficient thymocytes or Rag2-/- deficient thymocytes that express a rearranged Tcrb transgene.
