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May 8, 2026LeukemiaOpen Access

U2af1S34F and U2af1Q157R myeloid neoplasm-associated hotspot mutations induce distinct hematopoietic phenotypes in mice

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Authors

MAMichael O. AlbertiSSSridhar Nonavinkere SrivatsanJSJin Shao

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Overview

Randomized trial uncovers unique hematopoietic phenotypes in mice with U2AF1 mutations, suggesting different disease impacts.

Key Points

  • The aim is to understand how specific mutations in U2AF1 affect hematopoietic phenotypes in mice.
  • Characterized in vivo effects of U2AF1 S34F and Q157R mutations in mouse models.
  • Measured blood and bone marrow cell counts, and stem cell repopulating ability in mice.
  • Analyzed gene expression and RNA splicing differences between the mutations.
  • Mice with U2af1 S34F showed a significant reduction in blood and bone marrow cell counts compared to those with Q157R.
  • U2af1 S34F mutations led to a higher reduction in stem cell repopulating ability than Q157R.
  • Distinct gene expression and splicing patterns were observed between the mutations in both mice and human samples.

Cite This Study

Alberti et al. (2026) studied this question.

synapsesocial.com/papers/69fd7f65bfa21ec5bbf07e17https://doi.org/10.1038/s41375-026-02974-7
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Also Consider

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

  1. 1Genomic landscape, clinical correlates and prognostic implications of U2AF1 mutation subtypes in myelodysplastic neoplasms2026
  2. 2Transcriptional and splicing dysregulation by U2AF1 mutations contribute to inflammatory and migratory alterations in MDS2025
  3. 3An actionable DNA repair defect in myeloid malignancies with U2AF1 S34 mutations2025
  4. 41,200+ U2AF1 mutations reveal distinct clinicobiological features of the S34/Q157 co-mutation subgroup2025
  5. 5Comprehensive Analyses of the Effects of the Small-Molecule Inhibitor of the UHM Domain in the Splicing Factor U2AF1 in Leukemia Cells2024 · 4 citations