Cristian Garcia-Ruiz, Cristina Martínez-Valiente, Lourdes Cordón, Alessandro Liquori, Raúl Fernández-González, Eva Pericuesta, Juan Sandoval, José Cervera, Alfonso Gutiérrez-Adán, Alejandra Sanjuan-Pla
RNA splicing and epigenetic gene mutations are the most frequent genetic lesions found in patients with myelodysplastic neoplasm (MDS). About 25% of patients present concomitant mutations in such pathways, suggesting a cooperative role in MDS pathogenesis. Importantly, mutations in the splicing factor ZRSR2 frequently associate with alterations in the epigenetic regulator TET2. However, the impact of these concurrent mutations in hematopoiesis and MDS remains unclear. Using CRISPR/Cas9 genetically engineered mice, we demonstrate that Zrsr2m/m Tet2-/- promote MDS with reduced penetrance...
August 27, 2022: Leukemia