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December 8, 2025Blood

Granulocyte maturation and splicing defects in DDX41-mutated leukemia

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Authors

ARAyush T. RamanCSCaner SayginLXLiqiang Xi

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Overview

RNA-seq reveals DDX41 loss impacts granulocyte differentiation and splicing defects in AML, indicating altered immune processes.

Key Points

  • This research investigates the effects of DDX41 mutations on granulocyte maturation and RNA splicing in acute myeloid leukemia (AML).
  • Performed RNA-Sequencing and Tandem-Mass-Tag Mass Spectrometry on patients with DDX41 variants.
  • Compared gene and protein expression between AML patients and healthy controls.
  • Engineered HL-60 cells using CRISPR/CAS9 to study DDX41 function in granulocyte differentiation.
  • Identified 24,336 unique genes and 4,787 proteins, with 209 showing differential expression.
  • Observed impaired granulocyte maturation and significant apoptosis upon DDX41 degradation.
  • Found 133 splicing defects, mainly involving retained introns, in DDX41-mutated AML samples.

Cite This Study

Raman et al. (2025) studied this question.

synapsesocial.com/papers/69362f7d4fa91c937236e4b7https://doi.org/10.1182/blood-2025-1439
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1DDX41-R525H mutation promotes dysplastic hematopoiesis via aberrant splicing of key regulators of HSC biology2025 · 1 citations
  2. 2Germline DDX41 mutations in myeloid neoplasms: a comprehensive review2026 · 1 citations
  3. 3The somatic DDX41 hot spot mutation (p.R525H) causes skewed differentiation into plasmacytoid dendritic cells in human iPSC and leukemia models2025
  4. 4MDS/AML-associated DDX41 helicase facilitates homologous recombination repair by potentially resolving R-loops2026
  5. 5Abstract 1950 Biochemical Characterization of the Human RNA-dependent ATPase DDX412024