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Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point
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文摘

SF3B1 hotspot mutations are neomorphic and induce aberrant 3′ splice site selection

Mutant SF3B1 utilizes a different branch point than that used by wild-type SF3B1

SF3B1 mutants require the canonical 3′ splice site to induce aberrant splicing

∼50% of aberrant mRNAs undergo NMD leading to downregulation of canonical isoforms

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