{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nSF3B1 encodes a core component of the spliceosomal U2 small nuclear ribonucleoprotein that is essential for accurate pre‐mRNA splicing. Structural and biochemical studies have shown that SF3B1 forms an extensive interface with other splicing factors (for example, p14 and U2AF65) to create an RNA‐binding platform that facilitates recognition of the branchpoint and proper 3′‐splice‐site selection. In addition, SF3B1 has been found to interact with nucleosomes, suggesting that it helps integrate chromatin organization with splicing regulation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations in SF3B1 impair its normal function, leading to aberrant splicing patterns characterized by the preferential use of cryptic 3′ splice sites and altered branchpoint selection. These splicing defects result in the generation of abnormal mRNA isoforms that disturb the expression of genes involved in DNA damage responses, mitochondrial metabolism, and apoptotic regulation. Such dysregulated splicing has been demonstrated in diverse contexts—including myelodysplastic syndromes, chronic lymphocytic leukemia, and uveal melanoma—highlighting a change‐of‐function mechanism by which mutant SF3B1 contributes to malignant transformation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "10"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nClinically, SF3B1 mutations delineate distinct molecular subtypes across a range of hematologic and solid malignancies. In myelodysplastic syndromes, they are strongly associated with the formation of ring sideroblasts and tend to predict a more indolent clinical course, whereas in chronic lymphocytic leukemia and certain melanomas the presence of SF3B1 mutations correlates with aggressive disease and poorer outcomes. In addition, genomic studies in diverse patient cohorts and experimental models—from refractory anemias and therapy‐related acute myeloid leukemia to uveal and mucosal melanomas as well as even metabolic adaptations in cardiac hypertrophy—have underscored the pathogenetic impact of SF3B1 mutations. These findings have spurred the development of novel therapeutic strategies, such as spliceosome modulators, that exploit the altered splicing machinery in SF3B1‐mutant cells."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "11", "end_ref": "40"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Monika M Golas, Bjoern Sander, Cindy L Will, et al. 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