SF3B1 mutations in spliceosome-driven tumorigenesis: From splicing dysregulation to signaling network rewiring and therapeutic targeting.

Abstract excerpt

Splicing factor 3B subunit 1 (SF3B1), a core component of the U2 small nuclear ribonucleoprotein, has key functions in precursor messenger RNA (pre-mRNA) splicing and regulates gene expression by recognizing branch point sequences and coordinating spliceosome assembly. Mutations of SF3B1 have been identified as high-frequency drivers in various tumor types. These include hotspot mutations such as K700E, which...

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