Ontology highlight
ABSTRACT:
SUBMITTER: Obeng EA
PROVIDER: S-EPMC5023069 | biostudies-literature | 2016 Sep
REPOSITORIES: biostudies-literature
Obeng Esther A EA Chappell Ryan J RJ Seiler Michael M Chen Michelle C MC Campagna Dean R DR Schmidt Paul J PJ Schneider Rebekka K RK Lord Allegra M AM Wang Lili L Gambe Rutendo G RG McConkey Marie E ME Ali Abdullah M AM Raza Azra A Yu Lihua L Buonamici Silvia S Smith Peter G PG Mullally Ann A Wu Catherine J CJ Fleming Mark D MD Ebert Benjamin L BL
Cancer cell 20160901 3
More than 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 knockin mouse model of the most common SF3B1 mutation, Sf3b1(K700E). Sf3b1(K700E) mice develop macrocytic anemia due to a terminal erythroid maturation defect, erythroid dysplasia, and long-term hematopoietic stem cell (LT-HSC) expansion. Sf3b1(K700E) myeloid progenitors and SF3B1-mutant MDS patie ...[more]