2009
Pot1b Deletion and Telomerase Haploinsufficiency in Mice Initiate an ATR-Dependent DNA Damage Response and Elicit Phenotypes Resembling Dyskeratosis Congenita
He H, Wang Y, Guo X, Ramchandani S, Ma J, Shen MF, Garcia DA, Deng Y, Multani AS, You MJ, Chang S. Pot1b Deletion and Telomerase Haploinsufficiency in Mice Initiate an ATR-Dependent DNA Damage Response and Elicit Phenotypes Resembling Dyskeratosis Congenita. Molecular And Cellular Biology 2009, 29: 229-240. PMID: 18936156, PMCID: PMC2612488, DOI: 10.1128/mcb.01400-08.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAtaxia Telangiectasia Mutated ProteinsBone Marrow CellsCell Cycle ProteinsCell DeathCell ProliferationDNA DamageDNA-Binding ProteinsDyskeratosis CongenitaGene DeletionHaploidyHematopoietic SystemMiceMice, KnockoutNucleic Acid ConformationOrgan SpecificityPhenotypeProtein Serine-Threonine KinasesSurvival AnalysisTelomeraseTelomereConceptsDisease dyskeratosis congenitaATR-dependent DNA damage responseDNA damage responseTelomerase haploinsufficiencyDamage responseBone marrow failureTelomeres 1 (POT1) proteinDyskeratosis congenitaProliferative tissueGenome integrityPOT1 functionChromosome endsMarrow failureEnd fusionsG-overhangsChromosome instabilityTelomerase deficiencyGerm cellsBinding proteinHematopoietic progenitorsStem cellsSurvival potentialEssential roleLong-term viabilityCellular viability
2001
Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit
Ranganathan V, Heine W, Ciccone D, Rudolph K, Wu X, Chang S, Hai H, Ahearn I, Livingston D, Resnick I, Rosen F, Seemanova E, Jarolim P, DePinho R, Weaver D. Rescue of a telomere length defect of Nijmegen breakage syndrome cells requires NBS and telomerase catalytic subunit. Current Biology 2001, 11: 962-966. PMID: 11448772, DOI: 10.1016/s0960-9822(01)00267-6.Peer-Reviewed Original ResearchConceptsNijmegen breakage syndromeNBS fibroblastsNBS patientsCatalytic subunitChromosome instabilityNijmegen breakage syndrome cellsDNA repair complexRare human diseasesTRF proteinsTelomere extensionNBS cellsTelomere endsRepair complexAccessory proteinsBreakage syndromeGrowth cessationHuman diseasesCancer predispositionLength defectsTelomeresPremature growth cessationProliferative capacitySubunitsProteinGamma irradiation damage