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December 8, 2025Blood

Increased prevalence of alternative splicing in core-cohesin subunit mutated AML as compared to STAG2 mutated AML

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Authors

JMJosiah MurrayLBLauren BanaagKKKhanmi Kasomva

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Overview

Experimental analysis found increased alternative splicing in core-cohesin mutated AML, suggesting unique molecular paths for treatment.

Key Points

  • To investigate the prevalence of alternative splicing in core-cohesin subunit mutations compared to STAG2 mutations in AML.
  • Assessed cohesin mutations using NPM1c+ OCIAML3 cell line
  • Performed Cas9 editing to create isogenic clones
  • Conducted RNA-seq to evaluate alternative splicing and gene expression
  • Core-cohesin mutations show double the alternative splicing events compared to STAG2 mutations
  • Core-subunit mutations associated with specific genomic positioning alterations
  • Alternative splicing differences linked to cohesin occupancy at promoters

Cite This Study

Murray et al. (2025) studied this question.

synapsesocial.com/papers/69362f3d4fa91c937236d4b9https://doi.org/10.1182/blood-2025-3246
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Also Consider

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

  1. 1Impact of cohesin complex gene mutations on clinical outcomes in Acute Myeloid Leukemia2025
  2. 2Subunit-specific analysis of cohesin-mutant myeloid malignancies reveals distinct ontogeny and outcomes2024 · 16 citations
  3. 3STAG2 mutations reshape the cohesin-structured spatial chromatin architecture to drive gene regulation in acute myeloid leukemia2024 · 27 citations
  4. 4Enhanced FLI1 accessibility mediates STAG2-mutant leukemogenesis2025
  5. 5SF3B1 mutations K700E, K666N, and R625H: Gene expression and aberrant splicing consequences2025