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Splicing factor 3b subunit 1 (Sf3b1) haploinsufficient mice display features of low risk Myelodysplastic syndromes

Valeria Visconte1, Ali Tabarroki2, Li Zhang3

  • 1Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, 9500 Euclid Avenue R40, Cleveland, OH, USA, 44195. visconv@ccf.org.

Journal of Hematology & Oncology
|December 8, 2014
PubMed
Abstract

Insights

Splicing factor 3b subunit 1 (SF3B1) mutations are key in Myelodysplastic syndromes with ring sideroblasts (MDS-RS). Sf3b1 (+/-) mice show low-risk MDS-RS features, making them valuable for preclinical studies.

Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • Somatic mutations in SF3B1 are implicated in MDS-RS.
  • Sf3b1 heterozygous (Sf3b1 (+/-)) mice exhibit bone marrow ring sideroblasts (RS), a rare finding in MDS mouse models.
  • These mice were initially developed to study polycomb gene interactions.

Purpose of the Study:

  • To evaluate the hematologic and morphologic characteristics of Sf3b1 (+/-) mice.
  • To determine the relevance of Sf3b1 (+/-) mice as a model for MDS-RS.
  • To investigate the transcriptome of bone marrow cells in Sf3b1 (+/-) mice.

Main Methods:

  • Long-term follow-up (15 months) comparing Sf3b1 (+/-) and Sf3b1 (+/+) mice.
  • Routine blood tests and histopathologic analysis of bone marrow, spleen, and liver.
  • Comprehensive RNA-sequencing of bone marrow cells.

Main Results:

  • Sf3b1 (+/-) mice displayed macrocytic anemia and thrombocytosis compared to controls.
  • Bone marrow analysis revealed dyserythropoiesis and occasional RS.
  • RNA-sequencing indicated increased expression of Jak2-related genes in Sf3b1 (+/-) mice.

Conclusions:

  • Sf3b1 (+/-) mice exhibit key features of low-risk MDS-RS.
  • This mouse model is potentially relevant for preclinical therapeutic investigations in MDS-RS.

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