Article
Variant-specific SF3B1 mutations drive distinct splicing and mitochondrial dysfunction in myelodysplastic neoplasms.
Human genomics - 18 Jun 2026
Hruštincová Andrea, Trsová Iva, Kundrát David, Beličková Monika, Kaisrlíková Monika, Veselá Jitka, Krejčík Zdeněk, Hlaváčková Alžběta, Suttnar Jiří, Štufková Hana, Volfová Nikol, Hansíková Hana, Aghová Tatiana, Zemanová Zuzana, Jonášová Anna, Čermák Jaroslav, Šťastná Marková Markéta, Dostálová Merkerová Michaela
Abstract excerpt
BACKGROUND: SF3B1 spliceosome mutations are among the most common genetic lesions in myelodysplastic neoplasms (MDS). The canonical hotspot K700E variant is generally associated with a favorable prognosis, whereas the impact of other recurrent variants is poorly defined. We investigated the clinical, transcriptomic, and functional consequences of distinct SF3B1 mutations in MDS patients and isogenic cell models....
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