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Mutations in the splicing factor SF3B1 are linked to frequent emergence of HLA-DRlow/neg monocytes in lower-risk myelodysplastic neoplasms

ABSTRACT: Recurrent mutations in splicing factors, in particular the splicing factor 3B subunit 1 (SF3B1), are commonly seen in lower-risk (LR) myelodysplastic neoplasms (MDS) and result in various aberrantly spliced transcripts. The cell type-specific changes and their contribution to immune dysregulation in MDS remain vaguely understood. In this study, we performed RNA sequencing on classical monocytes isolated from patients with an isolated SF3B1K700E hotspot mutation. Our analysis revealed downregulated expression of genes involved in inflammatory cytokine signaling, as well as differential mRNA splicing of several genes involved in the regulation of the defense response and cytokine signaling, mRNA metabolism, apoptotic signaling, and mitotic cell cycle.

ORGANISM(S): Homo sapiens

PROVIDER: GSE236535 | GEO | 2024/04/18

REPOSITORIES: GEO

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DNA Replication Stress Due to Loss of R-Loops in Myelodysplastic Syndromes with SF3B1 Mutation

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