2017
Structural insights into POT1-TPP1 interaction and POT1 C-terminal mutations in human cancer
Chen C, Gu P, Wu J, Chen X, Niu S, Sun H, Wu L, Li N, Peng J, Shi S, Fan C, Huang M, Wong CC, Gong Q, Kumar-Sinha C, Zhang R, Pusztai L, Rai R, Chang S, Lei M. Structural insights into POT1-TPP1 interaction and POT1 C-terminal mutations in human cancer. Nature Communications 2017, 8: 14929. PMID: 28393832, PMCID: PMC5394241, DOI: 10.1038/ncomms14929.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsConserved SequenceDNA DamageDNA Mutational AnalysisDNA RepairGenomic InstabilityHumansMiceModels, MolecularMolecular ChaperonesMutationNeoplasmsPhosphoproteinsProstaglandin-E SynthasesProtein BindingProtein Structure, SecondaryScattering, Small AngleShelterin ComplexStructure-Activity RelationshipTelomere-Binding ProteinsX-Ray DiffractionConceptsTelomerase-mediated telomere extensionHuman cancersDNA damage responseC-terminal mutationsOB foldsHuman POT1Chromosome endsGenome instabilityPOT1-TPP1Telomere extensionDamage responseStable heterodimerA-NHEJStructural insightsC-terminusInappropriate repairTPP1POT1Heart-shaped structureMissense mutationsTerminal portionMutationsDomainMutantsTelomeres
2006
BRIT1 regulates early DNA damage response, chromosomal integrity, and cancer
Rai R, Dai H, Multani AS, Li K, Chin K, Gray J, Lahad JP, Liang J, Mills GB, Meric-Bernstam F, Lin SY. BRIT1 regulates early DNA damage response, chromosomal integrity, and cancer. Cancer Cell 2006, 10: 145-157. PMID: 16872911, PMCID: PMC1557410, DOI: 10.1016/j.ccr.2006.07.002.Peer-Reviewed Original ResearchMeSH KeywordsBase SequenceBreast NeoplasmsCell Cycle ProteinsCell Line, TumorCell NucleusCell Transformation, NeoplasticChromatinChromosome AberrationsCytoskeletal ProteinsDNA DamageFemaleGene DosageHumansMolecular Sequence DataMutationNerve Tissue ProteinsNuclear ProteinsOvarian NeoplasmsTrans-ActivatorsTumor Suppressor ProteinsConceptsATM/ATR pathwayDNA damage response pathwayEarly DNA damage responseDNA damage regulatorDNA damage checkpointDamage response pathwayDNA damage responseTumor suppressor geneHTERT repressorDamage checkpointATR pathwayDamage responseResponse pathwaysBRIT1Chromosomal integrityGenomic instabilitySuppressor geneHuman cancersAdditional functionsChromosomal aberrationsPathwayMDC1NBS1RepressorGenes