Physiologic expression of Sf3b1K700E causes impaired erythropoieses, aberrant splicing, and sensitivity to pharmacologic spliceosome modulation

Authors

Seiler, Michael

Obeng, Esther A.

Description

Summary from GEO: "Over 80% of patients with the refractory anemia with ring sideroblasts subtype of myelodysplastic syndrome (MDS) have mutations in Splicing Factor 3B, Subunit 1 (SF3B1). We generated a conditional knock-in mouse model of the most common SF3B1 mutation, Sf3b1K700E. Sf3b1K700E mice develop macrocytic anemia due to a terminal erythroid maturation defect, erythroid dysplasia, and...

Subject

Anemia, Macrocytic

Anemia, Refractory

Erythropoiesis

Gene Expression Profiling

Myelodysplastic Syndromes

Spliceosomes

Access Rights

Free to All