NIH R01 · 2025
Functional and molecular consequences of SF3B1 mutations in human hematopoietic stem cells
ABSTRACT The surprising discovery that RNA splicing alterations induced by recurrent and common change-of-function mutations in the spliceosome can perturb hematopoiesis and lead to disease has raised a number of fundamental questions. SF3B1 mutations are found ~30% of patients with myelodysplastic syndromes (MDS) and are common disease-initiating events that first arise in hematopoietic stem cells (HSCs) in premalignant clonal hematopoiesis, or CHIP. The finding of SF3B1 mutations in CHIP suggests that these mutations confer a clonal fitness advantage to HSCs. However, how SF3B1 mutations dysregulate HSC function to promote clonal expansion and subsequent MDS development has not been…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.