2010
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome
Rucci F, Notarangelo L, Fazeli A, Patrizi L, Hickernell T, Paganini T, Coakley K, Detre C, Keszei M, Walter J, Feldman L, Cheng H, Poliani P, Wang J, Balter B, Recher M, Andersson E, Zha S, Giliani S, Terhorst C, Alt F, Yan C. Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. Proceedings Of The National Academy Of Sciences Of The United States Of America 2010, 107: 3024-3029. PMID: 20133615, PMCID: PMC2840307, DOI: 10.1073/pnas.0914865107.Peer-Reviewed Original ResearchConceptsLIG4 mutationsGrowth retardationPeripheral T lymphocytesLIG4 syndromeLow-affinity antibodiesLeaky SCIDHomozygous mutant miceAnergic phenotypeHigh-affinity antibodiesT lymphocytesMouse modelB cell developmentMutant miceDevelopmental delayDecreased life spanTumor developmentFacial dysmorphismLymphocyte developmentMiceAutoreactive specificitiesNonhomologous end-joining repair pathwaySyndromeHigh rateSCIDVariable degrees
2009
Mechanisms promoting translocations in editing and switching peripheral B cells
Wang J, Gostissa M, Yan C, Goff P, Hickernell T, Hansen E, Difilippantonio S, Wesemann D, Zarrin A, Rajewsky K, Nussenzweig A, Alt F. Mechanisms promoting translocations in editing and switching peripheral B cells. Nature 2009, 460: 231-236. PMID: 19587764, PMCID: PMC2907259, DOI: 10.1038/nature08159.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsB-LymphocytesCytidine DeaminaseDNA Breaks, Double-StrandedDNA-Binding ProteinsFemaleGene Rearrangement, B-LymphocyteGenes, ImmunoglobulinGenes, mycHomeodomain ProteinsImmunoglobulin Class SwitchingImmunoglobulin Heavy ChainsImmunoglobulin kappa-ChainsImmunoglobulin lambda-ChainsIntegrasesInterphaseLymphocyte ActivationMaleMiceReceptors, Complement 3dRecombination, GeneticSpleenTranslocation, Genetic
2007
IgH class switching and translocations use a robust non-classical end-joining pathway
Yan C, Boboila C, Souza E, Franco S, Hickernell T, Murphy M, Gumaste S, Geyer M, Zarrin A, Manis J, Rajewsky K, Alt F. IgH class switching and translocations use a robust non-classical end-joining pathway. Nature 2007, 449: 478-482. PMID: 17713479, DOI: 10.1038/nature06020.Peer-Reviewed Original Research