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DDX11 loss causes replication stress and pharmacologically exploitable DNA repair defects

Nanda Kumar Jegadesan, Dana Branzei

2021Proceedings of the National Academy of Sciences36 citationsDOIOpen Access PDF

Abstract

Significance Replication stress can affect development and is a hallmark of cancers. Warsaw breakage syndrome is a developmental disorder caused by mutations in the conserved DDX11 DNA helicase. Here, using human cellular models of DDX11 deficiency, we report that DDX11 helicase prevents replication stress and mediates homology-directed repair via homologous recombination. Mechanistically, DDX11 promotes resection, enabling RPA and RAD51 focus formation, and acts nonredundantly with the RAD51 mediators BRCA1 and BRCA2. As a result, targeting DDX11 confers improved chemotherapy responsiveness in both chemotherapy-sensitive and drug-resistant BRCA1/2-mutated cancers that regained homologous recombination proficiency by suppressor mutation or somatic reversion. The results pinpoint DDX11 as a critical replication stress mitigating factor whose targeting can improve chemotherapeutic response in a range of cancers.

Topics & Concepts

RAD51Homologous recombinationBiologyHelicaseDNA repairReversionReplication protein AHomologous chromosomeDNA replicationDNAMutationdnaB helicaseGeneticsCell biologyDNA-binding proteinGeneTranscription factorPhenotypeRNADNA Repair MechanismsPARP inhibition in cancer therapyCRISPR and Genetic Engineering
DDX11 loss causes replication stress and pharmacologically exploitable DNA repair defects | Litcius