Aurore Tourville

Apr 7, 2024 | nature.com | Carine D. Lefèvre |Raphaël M. Mangione |Batoul Farhat |Ismael Boussaid |Chloé Friedrich |Aurore Tourville | +21 more

AbstractMyelodysplastic syndromes (MDS) with mutated SF3B1 gene present features including a favourable outcome distinct from MDS with mutations in other splicing factor genes SRSF2 or U2AF1. Molecular bases of these divergences are poorly understood. Here we find that SF3B1-mutated MDS show reduced R-loop formation predominating in gene bodies associated with intron retention reduction, not found in U2AF1- or SRSF2-mutated MDS.