2016
Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies
Brauer PM, Pessach IM, Clarke E, Rowe JH, Ott de Bruin L, Lee YN, Dominguez-Brauer C, Comeau AM, Awong G, Felgentreff K, Zhang YH, Bredemeyer A, Al-Herz W, Du L, Ververs F, Kennedy M, Giliani S, Keller G, Sleckman BP, Schatz DG, Bushman FD, Notarangelo LD, Zúñiga-Pflücker JC. Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies. Blood 2016, 128: 783-793. PMID: 27301863, PMCID: PMC4982452, DOI: 10.1182/blood-2015-10-676304.Peer-Reviewed Original ResearchConceptsInduced pluripotent stem cellsT cell developmentPluripotent stem cellsT cell receptorStem cellsOmenn syndrome patientsSingle-strand DNA breaksHuman induced pluripotent stem cellsControl iPSCsDeep-sequencing analysisT lineage cellsHuman T-cell developmentT cell progenitorsIPSC-derived cellsJoining genesImpaired T-cell differentiationDNA breaksSame geneN-terminalImmune system developmentLocus rearrangementT cell differentiationPatient cellsRecombination activityGenetic defects
1997
αβ Lineage‐committed thymocytes can be rescued by the γδ T cell receptor (TCR) in the absence of TCR β chain
Livák F, Wilson A, MacDonald H, Schatz D. αβ Lineage‐committed thymocytes can be rescued by the γδ T cell receptor (TCR) in the absence of TCR β chain. European Journal Of Immunology 1997, 27: 2948-2958. PMID: 9394823, DOI: 10.1002/eji.1830271130.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell DifferentiationFemaleGene Expression RegulationGene Rearrangement, alpha-Chain T-Cell Antigen ReceptorMiceMice, Inbred AKRMice, Inbred C57BLMice, KnockoutMice, TransgenicModels, ImmunologicalReceptors, Antigen, T-Cell, alpha-betaReceptors, Antigen, T-Cell, gamma-deltaThymus GlandT-Lymphocyte SubsetsTransgenesConceptsT cell receptorLineage commitmentT cell lineage commitmentCell lineage commitmentAlpha beta T cell developmentTCR beta proteinGamma delta T cell lineagesAlpha beta lineageT cell developmentCell receptorTCR-mediated selectionGene rearrangementsCell lineagesT cellsΑβ lineageCell developmentTCR gammaAlpha betaT-cell lineageBeta lineageLineagesGamma delta T-cell receptorTCR β chainGamma delta T cellsDelta T-cell receptor
1995
In-frame TCR δ gene rearrangements play a critical role in the αβ/γδ T cell lineage decision
Livak F, Petrie H, Crisps I, Schatz D. In-frame TCR δ gene rearrangements play a critical role in the αβ/γδ T cell lineage decision. Immunity 1995, 2: 617-627. PMID: 7796295, DOI: 10.1016/1074-7613(95)90006-3.Peer-Reviewed Original ResearchConceptsT cell lineage decisionsCell lineage decisionsLineage decisionsRandom gene rearrangementsSouthern blot analysisT cell receptor complexCell receptor complexGene rearrangementsDelta locusLocus sequenceGamma delta lineageReceptor complexT cell receptorBlot analysisDistinct precursorsCommon precursorCell receptorCritical roleDelta rearrangementsDelta lineageRearrangementΔ gene rearrangementAlpha betaT cellsGamma delta T-cell receptor
1990
RAG-1 and RAG-2, Adjacent Genes That Synergistically Activate V(D)J Recombination
Oettinger M, Schatz D, Gorka C, Baltimore D. RAG-1 and RAG-2, Adjacent Genes That Synergistically Activate V(D)J Recombination. Science 1990, 248: 1517-1523. PMID: 2360047, DOI: 10.1126/science.2360047.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBase SequenceBiological EvolutionCattleCell LineChickensCricetinaeDNADNA NucleotidyltransferasesDNA-Binding ProteinsDogsFemaleGene Rearrangement, B-LymphocyteGene Rearrangement, T-LymphocyteHomeodomain ProteinsHumansMaleMiceMolecular Sequence DataMultigene FamilyNuclear ProteinsNucleic Acid HybridizationOpossumsProteinsRabbitsRecombination, GeneticRestriction MappingTransfectionTurtlesVDJ RecombinasesConceptsRAG-2RAG-1Adjacent genesRecombinase activityFrequency of recombinationPutative proteinUntranslated sequenceSingle exonGenomic rearrangementsExpression patternsVast repertoireGenesComplementary DNAAmino acidsT cell receptorCell receptorRecombinationSequenceKilobasesExonsCotransfectionRecombinaseSpeciesProteinDNA
1989
The Recombination Activating Gene and Lymphoid Differentiation
Baltimore D, Oettinger M, Schatz D. The Recombination Activating Gene and Lymphoid Differentiation. 1989, 385-388. DOI: 10.1007/978-3-642-83755-5_50.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus Statements