ArticleMedical oncology (Northwood, London, England)2025
The effect of U2AF1 mutation on erythroid differentiation and sensitivity to demethylation drug treatment.
Article in Medical oncology (Northwood, London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Myelodysplastic syndrome (MDS) is a group of blood disorders characterized by impaired maturation of erythroid cells. Mutations in the U2 small nuclear RNA auxiliary factor 1 (U2AF1) gene, particularly S34 (S34F/Y) and Q157 (Q157P/R), have been identified in 5-10% of MDS patients. By analyzing U2AF1 expression in hematopoietic stem progenitor cells and different blood cells in the GEO database, we have found the expression pattern of U2AF1 showed a significant stage specificity during normal erythropoiesis. To explore the specific impact of U2AF1 alterations on cellular function, we transduced K562 cells with lentivirus carrying four different types of U2AF1 mutants. Our results showed that these mutations significantly inhibited the growth of K562 cells. Mutations at the S34 sites (S34F and S34Y) reduced the mRNA expression levels of erythroid-related transcription factors GATA1, NF-E2, EKLF, and GFI-1B. The proportion of cells with CD71
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