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Record W4409286918 · doi:10.1038/s41375-025-02593-8

DEK::NUP214 acts as an XPO1-dependent transcriptional activator of essential leukemia genes

2025· article· en· W4409286918 on OpenAlexafffund
Fadimana Kaya, Findlay Bewicke‐Copley, Juho J. Miettinen, Pedro Casado, Eve Leddy, Özgen Deniz, Vincent‐Philippe Lavallée, Céline Philippe, Jiexin Zheng, Florian Grebien, Naeem Khan, Szilvia Krizsán, Joseph Saad, Alexis Nolin-Lapalme, Josée Hébert, Sébastien Lemieux, Éric Audemard, Janet Matthews, Marianne Grantham, Doriana Di Bella, Krister Wennerberg, Alun Parsons, John G. Gribben, James D. Cavenagh, Sylvie Freeman, Csaba Bödör, Guy Sauvageau, Jun Wang, Pilar Llamas, Jean‐Baptiste Cazier, David Taussig, Dominique Bonnet, Pedro R. Cutillas, Caroline A. Heckman, Jude Fitzgibbon, Kevin Rouault‐Pierre, Ana Rio‐Machín

Bibliographic record

VenueLeukemia · 2025
Typearticle
Languageen
FieldMedicine
TopicAcute Myeloid Leukemia Research
Canadian institutionsUniversité de MontréalHôpital Maisonneuve-RosemontInstitute for Research in Immunology and CancerCentre Hospitalier Universitaire Sainte-Justine
FundersDirectorate for Biological SciencesBarts Health NHS TrustUniversity College London Hospitals NHS Foundation TrustUniversité de MontréalSemmelweis EgyetemInstitut National de la Santé et de la Recherche MédicaleCancer Research UKKay Kendall Leukaemia FundÖsterreichischen Akademie der WissenschaftenHelsingin YliopistoFrancis Crick InstituteGenome CanadaEuropean Hematology AssociationCentre hospitalier universitaire Sainte-JustineUniversity College LondonHelsinki Institute of Life Science, Helsingin YliopistoQueen Mary University of LondonBarts CharityVeterinärmedizinische Universität WienCancer Research Institute
KeywordsBiologyTranscriptomeFusion geneGeneActivator (genetics)Fusion proteinLeukemiaHox geneMyeloid leukemiaCancer researchChromosomal translocationPromoterGeneticsTranscription factorComputational biologyGene expression

Abstract

fetched live from OpenAlex

The t(6;9)(p22.3;q34.1) translocation/DEK::NUP214 fusion protein defines a distinct subgroup of younger AML patients classified as a separate disease entity by the World Health Organization. DEK is a nuclear factor with multifunctional roles, including gene regulation, while its fusion partner, NUP214, plays a pivotal role in nuclear export by interacting with transport receptors such as XPO1. However, the precise mechanism by which DEK::NUP214 drives leukemia remains unclear. A comprehensive multi-omics comparison of 57 AML primary samples (including whole genome sequencing, targeted sequencing, transcriptomics, and drug screening with >500 compounds) revealed that t(6;9) cases display a selective response to XPO1 inhibitors (Selinexor & Eltanexor) and a distinct transcriptomic signature characterized by the overexpression of FOXC1 and HOX genes that are key leukemia mediators. CUT&RUN experiments demonstrated the direct binding of DEK::NUP214 to the promoters of FOXC1 and HOXA/B clusters. Strikingly, the expression of these genes and the binding of DEK::NUP214 to their regulatory regions were selectively reduced upon XPO1 inhibition in t(6;9) cells. Altogether, these results identified a novel function of DEK::NUP214 as an XPO1-dependent transcriptional activator of key leukemia drivers and provide a rationale to explore the use of XPO1 inhibitors in this patient population.

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)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow), Insufficient payload (model declined to judge)
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 score0.061
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0010.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
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 head0.017
GPT teacher head0.315
Teacher spread0.298 · 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.

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

Citations6
Published2025
Admission routes2
Has abstractyes

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