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Record W4411210281 · doi:10.1093/nar/gkaf512

<i>R</i>-2-hydroxyglutarate-mediated inhibition of KDM4A compromises telomere integrity

2025· article· en· W4411210281 on OpenAlexafffund
Florence Couteau, Laurence M. Gagné, Karine Boulay, Philippe Rousseau, Mélissa Carbonneau, Mary McQuaid, Jyoti Sharma, Christina Sawchyn, Erlinda Fernández, Dagmar Glatz, Rana Rizk, Marie‐Eve Lalonde, Yosra Mehrjoo, Tsz Wai Chu, Gaël Moquin‐Beaudry, Christian Beauséjour, Mikhail Sergeev, Santiago Costantino, Daina Avizonis, Ivan Topisirović, Nada Jabado, Hugo Würtele, Chantal Autexier, Frédérick A. Mallette

Bibliographic record

VenueNucleic Acids Research · 2025
Typearticle
Languageen
FieldMedicine
TopicTelomeres, Telomerase, and Senescence
Canadian institutionsMcGill University Health CentreMcGill UniversityOccupational Cancer Research CentreCentre Hospitalier Universitaire Sainte-JustineUniversité de MontréalHôpital Maisonneuve-Rosemont
FundersNatural Sciences and Engineering Research Council of CanadaTerry Fox FoundationCanada Foundation for InnovationFonds de Recherche du Québec - SantéCole FoundationFondation de l’Hôpital Maisonneuve-RosemontMcGill UniversityCanadian Institutes of Health ResearchCancer Research SocietyChesapeake Research Consortium
KeywordsBiologyTelomereGeneticsCell biologyDNA

Abstract

fetched live from OpenAlex

Mutation, deletion, or silencing of genes encoding cellular metabolism factors occurs frequently in human malignancies. Neomorphic mutations in isocitrate dehydrogenases 1 and 2 (IDH1/2) promoting the production of R-2-hydroxyglutarate (R-2HG) instead of α-ketoglutarate (αKG) are recurrent in human brain cancers and constitute an early event in low-grade gliomagenesis. Due to its structural similarity with αKG, R-2HG acts as an inhibitor of αKG-dependent enzymes. These include the JUMONJI family of lysine demethylases, among which KDM4A is particularly sensitive to R-2HG-mediated inhibition. However, the precise molecular mechanism through which inhibition of αKG-dependent enzymes by R-2HG promotes gliomagenesis remains poorly understood. Here, we show that treatment with R-2HG induces cellular senescence in a p53-dependent manner. Furthermore, expression of mutated IDH1R132H or exposure to R-2HG, which leads to KDM4A inhibition, causes telomeric dysfunction. We demonstrate that KDM4A localizes to telomeric repeats and regulates abundance of H3K9(me3) at telomeres. We show that R-2HG caused reduced replication fork progression, and that depletion of SMARCAL1, a helicase involved in replication fork reversal, rescues telomeric defects caused by R-2HG or KDM4A depletion. These results establish a model whereby IDH1/2 mutations cause R-2HG-mediated inhibition of KDM4A, leading to telomeric DNA replication defects, telomere dysfunction, and associated genomic instability.

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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.001
Threshold uncertainty score0.004

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
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 integrity0.0000.001
Insufficient payload (model declined to judge)0.0010.000

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 head0.058
GPT teacher head0.369
Teacher spread0.311 · 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 source (direct Gemma or distilled Codex), 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

Citations4
Published2025
Admission routes2
Has abstractyes

Explore more

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