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Audemard, E. O.

Publications and source records attributed to Audemard, E. O..

2 recordsLinked to original sources

Predictive Gene Discovery with EPCY: A Density-Based Alternative to DE analysis

Identifying predictive genes from high-throughput data remains a key challenge in biomedical research. Most current approaches rely on statistical tests to select differentially expressed genes (DEGs), which may not align with the goal of predicting outcomes. We present EPCY, a method that ranks genes based on their predictive power using cross-validated classifiers and density estimation, without relying on null hypothesis testing. Applied to both bulk and single-cell RNA sequencing datasets, EPCY consistently outperforms benchmark DEG-based methods in selecting robust candidate genes. It also demonstrates greater stability across varying cohort sizes, enabling reproducible gene prioritization even in large, heterogeneous datasets. EPCY provides interpretable predictive scores, facilitating candidate selection aligned with downstream validation goals.

bioinformatics↗

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

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.

cancer biology↗