2017
Defective Nucleotide Release by DNA Polymerase β Mutator Variant E288K Is the Basis of Its Low Fidelity
Mahmoud MM, Schechter A, Alnajjar KS, Huang J, Towle-Weicksel J, Eckenroth BE, Doublié S, Sweasy JB. Defective Nucleotide Release by DNA Polymerase β Mutator Variant E288K Is the Basis of Its Low Fidelity. Biochemistry 2017, 56: 5550-5559. PMID: 28945359, PMCID: PMC5654646, DOI: 10.1021/acs.biochem.7b00869.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SubstitutionBiocatalysisColonic NeoplasmsDNADNA Polymerase betaDNA RepairDNA ReplicationEnzyme StabilityFluorescent DyesHumansKineticsModels, MolecularMutagenesis, Site-DirectedMutationNaphthalenesulfonatesNeoplasm ProteinsP-DimethylaminoazobenzeneProtein ConformationProtein Interaction Domains and MotifsProtein RefoldingRecombinant ProteinsSubstrate SpecificityDNA Polymerase β Cancer-Associated Variant I260M Exhibits Nonspecific Selectivity toward the β–γ Bridging Group of the Incoming dNTP
Alnajjar KS, Negahbani A, Nakhjiri M, Krylov IS, Kashemirov BA, McKenna CE, Goodman MF, Sweasy JB. DNA Polymerase β Cancer-Associated Variant I260M Exhibits Nonspecific Selectivity toward the β–γ Bridging Group of the Incoming dNTP. Biochemistry 2017, 56: 5449-5456. PMID: 28862868, PMCID: PMC5634933, DOI: 10.1021/acs.biochem.7b00713.Peer-Reviewed Original ResearchDNA repair and systemic lupus erythematosus
Meas R, Burak MJ, Sweasy JB. DNA repair and systemic lupus erythematosus. DNA Repair 2017, 56: 174-182. PMID: 28623091, PMCID: PMC5543809, DOI: 10.1016/j.dnarep.2017.06.020.Peer-Reviewed Original ResearchConceptsSystemic lupus erythematosusDevelopment of lupusLupus erythematosusGenetic predispositionChronic autoimmune diseaseAutoimmune diseasesMonozygotic twin concordanceFamilial aggregation studiesImmune systemLupusPotential associationCommon risk allelesRisk allelesDNA repair genesEnvironmental exposuresAberrant DNA repairErythematosusDNA repairTwin concordanceRepair genesCurrent knowledgeRepairAggregation studiesPredispositionDisease
2016
The Tumor-Associated Variant RAD51 G151D Induces a Hyper-Recombination Phenotype
Marsden CG, Jensen RB, Zagelbaum J, Rothenberg E, Morrical SW, Wallace SS, Sweasy JB. The Tumor-Associated Variant RAD51 G151D Induces a Hyper-Recombination Phenotype. PLOS Genetics 2016, 12: e1006208. PMID: 27513445, PMCID: PMC4981402, DOI: 10.1371/journal.pgen.1006208.Peer-Reviewed Original ResearchMeSH KeywordsBRCA2 ProteinBreast NeoplasmsChromosome AberrationsDNA Breaks, Double-StrandedDNA DamageDNA RepairDoxorubicinFemaleGene Expression Regulation, NeoplasticGenomic InstabilityHumansMCF-7 CellsMitomycinMutationRad51 RecombinaseRadiation, IonizingRecombinational DNA RepairSister Chromatid ExchangeConceptsHuman breast epithelial cellsBreast epithelial cellsSister chromatid exchangesBreast carcinomaDrug resistanceMitomycin CEpithelial cellsChromosomal aberrationsHigh levelsChromatid exchangesRepairSomatic variantsRAD51 variantsDNA damageMultiple DNA damaging agentsDNA damaging agentsPresence of RPAPhenotypeCellsCarcinomaExpressionDNA double-strand breaksDamaging agentsLevelsVariants