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Article

Cancer-associated SF3B1-K700E mutation controls immune responses by regulating Treg function via aberrant Anapc13 splicing.

Science advances - 20 Sept 2024

Shi Yun, Zhang Wencan, Jia Qiong, Zhong Xiancai, Iyer Prajish, Wu Hongmin, Yuan Yate-Ching, Zhao Yuqi, Zhang Lianjun, Wang Lili, Jia Zhenyu, Kuo Ya-Huei, Sun Zuoming

Abstract excerpt

Recurrent somatic mutations in spliceosome factor 3b subunit 1 (SF3B1) are identified in hematopoietic malignancies, with SF3B1-K700E being the most common one. Here, we show that regulatory T cell (Treg)-specific expression of SF3B1-K700E (Sf3b1K700Efl/+/Foxp3YFP-Cre) results in spontaneous autoimmune phenotypes. CD4+ T cells from Sf3b1K700Efl/+/Foxp3YFP-Cre mice display defective Treg differentiation and...

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Source

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Identifiers

PMID: 39303038
DOI: 10.1126/sciadv.ado4274
PMCID: PMC11414738

Genes

SF3B1
CD4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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