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
1991
The recombination activating gene-1 (RAG-1) transcript is present in the murine central nervous system
Chun J, Schatz D, Oettinger M, Jaenisch R, Baltimore D. The recombination activating gene-1 (RAG-1) transcript is present in the murine central nervous system. Cell 1991, 64: 189-200. PMID: 1986864, DOI: 10.1016/0092-8674(91)90220-s.Peer-Reviewed Original ResearchMeSH KeywordsAgingAnimalsBase SequenceBrainCell DivisionCell LineChromosome MappingCytarabineGenesMiceMice, Inbred BALB CMolecular Sequence DataNeuronsNucleic Acid HybridizationOligonucleotide ProbesOrgan SpecificityPolymerase Chain ReactionRecombination, GeneticRNA ProbesTeratomaTranscription, GeneticTretinoinConceptsCentral nervous systemRAG-1 transcriptsMurine central nervous systemNervous systemHigh neuronal cell densityRAG-2 transcriptsSite-specific recombination machineryNeuronal cell densityNorthern blot analysisRecombination machineryGenome sitesPolymerase chain reactionRAG-2Postnatal brainPostnatal neuronsDetrimental alterationsRAG-1TranscriptsSitu hybridizationBlot analysisChain reactionNeuronsCell densityRecombination