Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts

Leukemia. 2017 Mar;31(3):720-727. doi: 10.1038/leu.2016.251. Epub 2016 Sep 8.

Abstract

Heterozygous somatic mutations affecting the spliceosome gene SF3B1 drive age-related clonal hematopoiesis, myelodysplastic syndromes (MDS) and other neoplasms. To study their role in such disorders, we generated knock-in mice with hematopoietic-specific expression of Sf3b1-K700E, the commonest type of SF3B1 mutation in MDS. Sf3b1K700E/+ animals had impaired erythropoiesis and progressive anemia without ringed sideroblasts, as well as reduced hematopoietic stem cell numbers and host-repopulating fitness. To understand the molecular basis of these observations, we analyzed global RNA splicing in Sf3b1K700E/+ hematopoietic cells. Aberrant splicing was associated with the usage of cryptic 3' splice and branchpoint sites, as described for human SF3B1 mutants. However, we found a little overlap between aberrantly spliced mRNAs in mouse versus human, suggesting that anemia may be a consequence of globally disrupted splicing. Furthermore, the murine orthologues of genes associated with ring sideroblasts in human MDS, including Abcb7 and Tmem14c, were not aberrantly spliced in Sf3b1K700E/+ mice. Our findings demonstrate that, despite significant differences in affected transcripts, there is overlap in the phenotypes associated with SF3B1-K700E between human and mouse. Future studies should focus on understanding the basis of these similarities and differences as a means of deciphering the consequences of spliceosome gene mutations in MDS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Sideroblastic / etiology*
  • Anemia, Sideroblastic / mortality
  • Anemia, Sideroblastic / pathology*
  • Animals
  • Disease Models, Animal
  • Gene Targeting
  • Hematopoiesis / genetics*
  • Humans
  • Mice
  • Mice, Transgenic
  • Mutation
  • Myelodysplastic Syndromes / complications*
  • Myelodysplastic Syndromes / genetics*
  • Phenotype
  • Phosphoproteins / genetics*
  • RNA Splicing Factors / genetics*
  • RNA Splicing Factors / metabolism
  • RNA Splicing*

Substances

  • Phosphoproteins
  • RNA Splicing Factors
  • Sf3b1 protein, mouse