RAG and RAG defects.
Products of the recombination-activating gene (RAG) play a crucial role in lymphoid cell development. During the past year, the functional properties of RAG protein domains have been better defined. Some mutations that alter the amino acid sequence of RAG1 or RAG2 have been shown to disturb B cell generation and to partially disturb T cell generation, resulting in Omenn syndrome in humans; moreover, peripheral re-expression of RAGs indicates their role in lymphoid cell homeostasis.
Notarangelo
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LD
Department of Pediatrics, University of Brescia, Spedali Civili, 25122, Brescia, Italy. notarang@master.cci.unibs.it
Villa
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A
Schwarz
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K
D000818:Animals; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D018398:Homeodomain Proteins / Q000737:chemistry / Q000235:genetics / Q000502:physiology*; D006801:Humans; D007133:Immunoglobulin Joining Region / Q000235:genetics; D007135:Immunoglobulin Variable Region / Q000235:genetics; D009154:Mutation; D009687:Nuclear Proteins; D011995:Recombination, Genetic
D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; D007133:Immunoglobulin Joining Region; D007135:Immunoglobulin Variable Region; D009687:Nuclear Proteins; C499311:RAG2 protein, human; C064655:V(D)J recombination activating protein 2; C064658:RAG-1 protein