2015
Chromosomal Loop Domains Direct the Recombination of Antigen Receptor Genes
Hu J, Zhang Y, Zhao L, Frock RL, Du Z, Meyers RM, Meng FL, Schatz DG, Alt FW. Chromosomal Loop Domains Direct the Recombination of Antigen Receptor Genes. Cell 2015, 163: 947-959. PMID: 26593423, PMCID: PMC4660266, DOI: 10.1016/j.cell.2015.10.016.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCCCTC-Binding FactorChromosomes, MammalianDNA-Binding ProteinsGenes, mycGenomeHigh-Throughput Nucleotide SequencingHomeodomain ProteinsHumansImmunoglobulin Heavy ChainsLymphomaMiceNucleotide MotifsRegulatory Sequences, Nucleic AcidRepressor ProteinsSequence Analysis, DNATranslocation, GeneticV(D)J RecombinationConceptsRecombination signal sequencesRSS pairAntigen receptor genesSignal sequenceRAG activityDNA breaksChromosomal loopsLoop domainBiological processesConvergent CTCFChromosomal translocationsCleavage siteReceptor geneTarget activitySuch breaksMarked orientation dependenceRecombinationRAGCTCFChromatinMegabasesOff-target distributionGenesBreaksDomain
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
Somatic Hypermutation of Immunoglobulin Genes Merging Mechanisms for Genetic Diversity
Papavasiliou FN, Schatz DG. Somatic Hypermutation of Immunoglobulin Genes Merging Mechanisms for Genetic Diversity. Cell 2002, 109: s35-s44. PMID: 11983151, DOI: 10.1016/s0092-8674(02)00706-7.Peer-Reviewed Original ResearchConceptsActivation-induced cytidine deaminaseSomatic hypermutationRNA editing enzymeDNA strand lesionsGenetic diversityEditing enzymeMolecular mechanismsRepair moleculesStrand lesionsCytidine deaminaseHypermutation processHypermutationRecent studiesModification reactionsEffective immune responseRecent advancesHigh-affinity antibodiesImmune responseDiversityEnzymePathwayMechanismDeaminaseDiscovery