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
2004
Antigen receptor genes and the evolution of a recombinase
Schatz DG. Antigen receptor genes and the evolution of a recombinase. Seminars In Immunology 2004, 16: 245-256. PMID: 15522623, DOI: 10.1016/j.smim.2004.08.004.Peer-Reviewed Original ResearchConceptsAntigen receptor genesReceptor geneDNA repair factorsSite-specific recombination reactionRAG transposonVertebrate genomesJawed vertebratesEvolutionary implicationsRAG2 proteinsTransposable elementsRepair factorsGenesAdaptive immune systemHorizontal transmissionRAG1VertebratesGenomeImmune systemTransposonGermlineRecombinaseRAG2ProteinRecombination reactionRecombination
1999
Transposition mediated by RAG1 and RAG2 and the evolution of the adaptive immune system
Schatz D. Transposition mediated by RAG1 and RAG2 and the evolution of the adaptive immune system. Immunologic Research 1999, 19: 169-182. PMID: 10493171, DOI: 10.1007/bf02786485.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsTransposable elementsAncestral receptor geneAdaptive immune systemReceptor gene segmentsReceptor geneAntigen receptor genesRAG proteinsRAG2 proteinsChromosomal DNAFunctional transposaseMillion yearsGene segmentsRAG1Dramatic supportImmune systemGenesRecent findingsUnusual structureProteinVertebratesTransposaseRAG2DNAEvolutionRecombinationDevelopmental neurobiology: Alternative ends for a familiar story?
Chun J, Schatz D. Developmental neurobiology: Alternative ends for a familiar story? Current Biology 1999, 9: r251-r253. PMID: 10209111, DOI: 10.1016/s0960-9822(99)80156-0.Commentaries, Editorials and Letters