Physiologic Expression of Sf3b1(K700E) Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation
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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 patient samples demonstrate aberrant 3' splice-site selection associated with increased nonsense-mediated decay. Tet2 loss cooperates with Sf3b1(K700E) to cause a more severe erythroid and LT-HSC phenotype. Furthermore, the spliceosome modulator, E7017, selectively kills SF3B1(K700E)-expressing cells. Thus, SF3B1(K700E) expression reflects the phenotype of the mutation in MDS and may be a therapeutic target in MDS.
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HSCs from mice mutant for Sf3b1, Srsf2, and U2af1 have a competitive disadvantage in vivo, unlike the clonal expansion observed in humans with these mutations.
“HSCs from mice mutant for these genes, Sf3b1 56, Srsf2 57, and U2af1 58, have a competitive disadvantage in vivo, unlike the clonal expansion observed in humans with these mutations.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [56]
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- Authors
- Obeng, E. A., Chappell, R. J., Seiler, M., Chen, M. C., Campagna, D. R., Schmidt, P. J., Schneider, R. K., Lord, A. M., Wang, L., Gambe, R. G., McConkey, M. E., Ali, A. M., Raza, A., Yu, L., Buonamici, S., Smith, P. G., Mullally, A., Wu, C. J., Fleming, M. D., & Ebert, B. L.
- Affiliations
- Brigham and Women's Hospital (US)
- Cambridge Intellectual Property (United Kingdom) (GB)
- Boston Children's Hospital (US)
- Harvard University (US)
- Columbia University Irving Medical Center (US)
- Broad Institute (US)
- Corresponding author
- Ebert, Benjamin L.
- ORCID
- Venue
- Cancer Cell
- Publisher
- Elsevier BV
- Published
- 2016-09
- Volume
- 30
- Issue
- 3
- Pages
- 404-417
- ISSN
- 1535-6108 (ISSN-L)
- PMC
- PMC5023069
- OpenAlex
- W2520178460
- Cited by
- 380
- References
- 55
- Citations by year
- 2026: 17 · 2025: 27 · 2024: 33 · 2023: 46 · 2022: 39 · 2021: 51 · 2020: 52 · 2019: 44 · 2018: 38 · 2017: 27 · 2016: 6
- FWCI
- 19.93
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cancer Cell (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- NIH (R01 HL082945, R24 DK099808)
- American Society of Hematology
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Health Sciences › Medicine › Hematology › Hematopoietic Stem Cell Transplantation
- Keywords
- SF3B1, refractory anemia with ringed sideroblasts, myelodysplastic syndrome, erythropoiesis, aberrant splicing, 3' splice site selection, nonsense-mediated mRNA decay, TET2, long-term hematopoietic stem cells, macrocytic anemia, therapeutic target
- MeSH terms
- RNA Splicing Factors, Animals, DNA-Binding Proteins, Erythropoiesis, Hematopoietic Stem Cells, Humans, Mice, Transgenic, Myelodysplastic Syndromes, Phosphoproteins, Proto-Oncogene Proteins, RNA Splicing, Point Mutation, Spliceosomes, Dioxygenases, Mice
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