Featured Publications
BRCA2 BRC missense variants disrupt RAD51-dependent DNA repair
Jimenez-Sainz J, Mathew J, Moore G, Lahiri S, Garbarino J, Eder JP, Rothenberg E, Jensen RB. BRCA2 BRC missense variants disrupt RAD51-dependent DNA repair. ELife 2022, 11: e79183. PMID: 36098506, PMCID: PMC9545528, DOI: 10.7554/elife.79183.Peer-Reviewed Original ResearchConceptsHomology-directed repairDNA double-strand breaksFork protectionReplication fork protectionRad51 nucleoprotein filamentsMissense mutationsSingle amino acid substitutionRad51-ssDNA complexesDouble-strand breaksUnknown functional consequencesBRCA2 VUSAmino acid substitutionsGenome stabilityNucleoprotein filamentDNA repairRepeat regionSpacer regionBRCA2 proteinBenign allelesCellular responsesAcid substitutionsFunctional consequencesFrameshift mutationGene predisposeBRC2BRCA2: one small step for DNA repair, one giant protein purified.
Jensen RB. BRCA2: one small step for DNA repair, one giant protein purified. The Yale Journal Of Biology And Medicine 2013, 86: 479-89. PMID: 24348212, PMCID: PMC3848102.Peer-Reviewed Original ResearchConceptsHomologous recombinationDNA repairDNA double-strand break repairActivity of Rad51Double-strand break repairDNA double-strand breaksReplication protein A.Homologous DNA sequencesDouble-strand breaksCurrent biochemical dataHigh-fidelity repairRole of BRCA2Faithful repairRad51 proteinNucleoprotein filamentBreak repairSingle-strand DNADNA sequencesGenomic instabilityDNA breaksGiant proteinRAD51Gene BRCA2BRCA2 proteinCentral player
2019
The Post-Synaptic Function of Brca2
Wang CX, Jimenez-Sainz J, Jensen RB, Mazin AV. The Post-Synaptic Function of Brca2. Scientific Reports 2019, 9: 4554. PMID: 30872704, PMCID: PMC6418147, DOI: 10.1038/s41598-019-41054-y.Peer-Reviewed Original ResearchConceptsDNA double-strand breaksHomologous recombinationMammalian cellsRegulation of HRDisplacement loop (D-loop) structureDouble-strand breaksPresynaptic nucleoprotein filamentHigh-fidelity processRAD51 activityGenetic diversityNucleoprotein filamentDSB repairHomologous dsDNAD-loopPost-synaptic functionRAD51Mechanistic underpinningsBiologic functionsUnexpected activityLoop structureBRCA2SsDNAFilamentsCellsDiversity