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Article

SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromes.

Proceedings of the National Academy of Sciences of the United States of America - 4 Jan 2022

Lieu Yen K, Liu Zhaoqi, Ali Abdullah M, Wei Xin, Penson Alex, Zhang Jian, An Xiuli, Rabadan Raul, Raza Azra, Manley James L, Mukherjee Siddhartha

Abstract excerpt

SF3B1 is the most frequently mutated RNA splicing factor in cancer, including in ∼25% of myelodysplastic syndromes (MDS) patients. SF3B1-mutated MDS, which is strongly associated with ringed sideroblast morphology, is characterized by ineffective erythropoiesis, leading to severe, often fatal anemia. However, functional evidence linking SF3B1 mutations to the anemia described in MDS patients harboring this...

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Source

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Identifiers

PMID: 34930825
DOI: 10.1073/pnas.2111703119
PMCID: PMC8740767

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromes.PMID 34930825Read ↗

SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromesSemantic proximity Read ↗

The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.Semantic proximity Read ↗

SF3B1 deficiency impairs human erythropoiesis via activation of p53 pathway: implications for understanding of ineffective erythropoiesis in MDSSemantic proximity Read ↗

SF3B1 mutant myelodysplastic syndrome: Recent advances.Semantic proximity Read ↗

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

CDK8 is a critical effector of cell fate dysregulation in <i>SF3B1</i> -mutant MDSSemantic proximity Read ↗

Erythroid Differentiation Enhances RNA Mis-Splicing in SF3B1-Mutant Myelodysplastic Syndromes with Ring Sideroblasts.Semantic proximity Read ↗

Targeting the EIF2AK1 Signaling Pathway Rescues Red Blood Cell Production in SF3B1 -Mutant Myelodysplastic Syndromes With Ringed SideroblastsSemantic proximity Read ↗

Erythroid differentiation intensifies RNA mis-splicing in <i>SF3B1</i> -mutant myelodysplastic syndromes with ring sideroblastsSemantic proximity Read ↗

The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblastsSemantic proximity Read ↗

Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells.Semantic proximity Read ↗

Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome.Semantic proximity Read ↗

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