Recombinase activating gene enzymes of lymphocytes.
Expression of T-cell receptor and surface immunoglobulins on T and B lymphocytes, respectively, is strictly dependent on the variable, (diversity) joining exon (V(D)J) recombination process, which is initiated by the lymphoid-specific recombinase activating gene proteins 1 and 2 (RAG1 and RAG2). Recent advances have highlighted the functional organization of the RAG1 and RAG2 proteins and have provided important information on the regulation of RAG gene expression. Depending on the severity of their effects on the V(D)J recombination process, mutations of the RAG genes account for a spectrum of combined immune deficiencies in humans.
Notarangelo
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Institute of Molecular Medicine Angelo Nocivelli, Department of Pediatrics, University of Brescia, Italy. notarang@master.cci.unibs.it
Santagata
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Villa
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D004254:DNA Nucleotidyltransferases / Q000502:physiology*; D004268:DNA-Binding Proteins / Q000502:physiology*; D005786:Gene Expression Regulation / Q000276:immunology*; D016654:Genes, RAG-1 / Q000502:physiology*; D006801:Humans; D019426:Integrases; D008214:Lymphocytes / Q000502:physiology*; D009687:Nuclear Proteins; D011948:Receptors, Antigen, T-Cell / Q000502:physiology*; D045522:Recombinases; D011995:Recombination, Genetic
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C499311:RAG2 protein, human; D011948:Receptors, Antigen, T-Cell; D045522:Recombinases; C064655:V(D)J recombination activating protein 2; D004254:DNA Nucleotidyltransferases; D019426:Integrases; C115006:integron integrase IntI1