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Record W3127215208 · doi:10.1172/jci140105

RNF168 regulates R-loop resolution and genomic stability in BRCA1/2-deficient tumors

2021· article· en· W3127215208 on OpenAlexafffund
Parasvi S. Patel, Karan Joshua Abraham, Kiran Kumar Naidu Guturi, Marie‐jo Halaby, Zahra Khan, Luís Palomero, Brandon Ho, Shili Duan, Jonathan St‐Germain, Arash Algouneh, Francesca Mateo, Samah El Ghamrasni, Haithem Barbour, Daniel R. Barnes, Jonathan Beesley, Otto Sánchez, Hal K. Berman, Grant W. Brown, El Bachir Affar, Georgia Chenevix‐Trench, Antonis C. Antoniou, C.H. Arrowsmith, Brian Raught, Miguel Ángel Pujana, Karim Mekhail, Anne Hakem, Razqallah Hakem

Bibliographic record

VenueJournal of Clinical Investigation · 2021
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicDNA Repair Mechanisms
Canadian institutionsOntario Tech UniversityHôpital Maisonneuve-RosemontToronto General HospitalUniversity Health NetworkUniversity of TorontoPrincess Margaret Cancer Centre
FundersInstituto de Salud Carlos IIIAgència de Gestió d'Ajuts Universitaris i de RecercaCanadian Institutes of Health ResearchMinistero dello Sviluppo EconomicoNational Cancer InstituteUniversity of TorontoCancer Research UKCentres de Recerca de CatalunyaGovernment of CanadaGovernment of OntarioGeneralitat de CatalunyaMinistère du Développement Économique, de l’Innovation et de l’ExportationEuropean Regional Development FundEuropean CommissionU.S. Department of DefenseBreast Cancer Research FoundationPrincess Margaret Cancer FoundationGenome CanadaFondation du cancer du sein du QuébecNational Institutes of HealthTerry Fox FoundationOvarian Cancer Research Fund
KeywordsGenome instabilityBiologyDNA damageCarcinogenesisDNA repairCancer researchMitotic catastropheGeneticsMutationMutagenesisCancerDNAGene

Abstract

fetched live from OpenAlex

Germline mutations in BRCA1 and BRCA2 (BRCA1/2) genes considerably increase breast and ovarian cancer risk. Given that tumors with these mutations have elevated genomic instability, they exhibit relative vulnerability to certain chemotherapies and targeted treatments based on poly (ADP-ribose) polymerase (PARP) inhibition. However, the molecular mechanisms that influence cancer risk and therapeutic benefit or resistance remain only partially understood. BRCA1 and BRCA2 have also been implicated in the suppression of R-loops, triple-stranded nucleic acid structures composed of a DNA:RNA hybrid and a displaced ssDNA strand. Here, we report that loss of RNF168, an E3 ubiquitin ligase and DNA double-strand break (DSB) responder, remarkably protected Brca1-mutant mice against mammary tumorigenesis. We demonstrate that RNF168 deficiency resulted in accumulation of R-loops in BRCA1/2-mutant breast and ovarian cancer cells, leading to DSBs, senescence, and subsequent cell death. Using interactome assays, we identified RNF168 interaction with DHX9, a helicase involved in the resolution and removal of R-loops. Mechanistically, RNF168 directly ubiquitylated DHX9 to facilitate its recruitment to R-loop-prone genomic loci. Consequently, loss of RNF168 impaired DHX9 recruitment to R-loops, thereby abrogating its ability to resolve R-loops. The data presented in this study highlight a dependence of BRCA1/2-defective tumors on factors that suppress R-loops and reveal a fundamental RNF168-mediated molecular mechanism that governs cancer development and vulnerability.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.002
metaresearch head score (Gemma)0.003
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.265
Threshold uncertainty score0.310

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0020.003
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.051
GPT teacher head0.325
Teacher spread0.274 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations72
Published2021
Admission routes2
Has abstractyes

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