2009
Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation
Giblin W, Chatterji M, Westfield G, Masud T, Theisen B, Cheng HL, DeVido J, Alt FW, Ferguson DO, Schatz DG, Sekiguchi J. Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation. Blood 2009, 113: 2965-2975. PMID: 19126872, PMCID: PMC2662642, DOI: 10.1182/blood-2008-07-165167.Peer-Reviewed Original ResearchConceptsDouble-strand breaksHypomorphic RAG1 mutationsImmune system dysfunctionDNA rearrangementsKnockin mouse modelP53 mutant backgroundAberrant DNA rearrangementsDNA double-strand breaksPremature immunosenescenceDNA end processingSystem dysfunctionRecombination signal sequencesMouse modelRAG1 mutationsImmune systemMice exhibitAntigen receptor genesThymic lymphomasTumor developmentVivo evidenceMutant backgroundLymphocyte developmentSignal sequenceReceptor geneHypomorphic mutations
2002
Evidence of a critical architectural function for the RAG proteins in end processing, protection, and joining in V(D)J recombination
Tsai CL, Drejer AH, Schatz DG. Evidence of a critical architectural function for the RAG proteins in end processing, protection, and joining in V(D)J recombination. Genes & Development 2002, 16: 1934-1949. PMID: 12154124, PMCID: PMC186421, DOI: 10.1101/gad.984502.Peer-Reviewed Original ResearchAlanineAmino Acid SubstitutionAnimalsCell LineCysteineDNADNA NucleotidyltransferasesDNA-Binding ProteinsGene Rearrangement, B-LymphocyteGenes, RAG-1Glutamic AcidHomeodomain ProteinsHumansMacromolecular SubstancesMiceMutagenesis, Site-DirectedNuclear ProteinsNucleic Acid ConformationPhenotypeProtein Interaction MappingRecombinant Fusion ProteinsRecombination, GeneticRegulatory Sequences, Nucleic AcidSerineSubstrate SpecificityVDJ Recombinases