The Pathogenic R3052W BRCA2 Variant Disrupts Homology-Directed Repair by Failing to Localize to the Nucleus
Jimenez-Sainz J, Krysztofiak A, Garbarino J, Rogers F, Jensen RB. The Pathogenic R3052W BRCA2 Variant Disrupts Homology-Directed Repair by Failing to Localize to the Nucleus. Frontiers In Genetics 2022, 13: 884210. PMID: 35711920, PMCID: PMC9197106, DOI: 10.3389/fgene.2022.884210.Peer-Reviewed Original ResearchDominant-negative alleleDNA damage responseDNA repair functionDNA strand exchangeHomology-directed repairGenome instabilityCellular functionsDamage responseDNA bindingNegative allelesStrand exchangeRepair functionGermline missense variantsCell survivalFunction mutationsMissense variantsRAD51Pathogenic allelesSimple lossPARP inhibitorsCytoplasmProteinAllelesHomologyDNADNA Strand Exchange to Monitor Human RAD51-Mediated Strand Invasion and Pairing
Lahiri S, Jensen RB. DNA Strand Exchange to Monitor Human RAD51-Mediated Strand Invasion and Pairing. Methods In Molecular Biology 2020, 2153: 101-113. PMID: 32840775, PMCID: PMC10434838, DOI: 10.1007/978-1-0716-0644-5_8.Peer-Reviewed Original ResearchConceptsDNA double-strand breaksDNA strand exchangeStrand invasionSingle-strand DNA gapsStrand exchangeDNA DSBsHuman Rad51 proteinDNA strand exchange reactionDouble-strand breaksHomologous recombination pathwayHigh-fidelity repairStrand exchange reactionGenomic integrityRad51 proteinReplication forksDNA substratesHomology searchDNA gapsGenetic informationMitotic cellsRecombination pathwayDNA moleculesProteinInvasionMeiosis