Cancer associated SF3B1 hotspot mutations induce cryptic 3' splice site selection through use of a different branch point

Authors

Seiler, Michael

Buonamici, Silvia

Description

Summary from GEO: "Recurrent mutations in the spliceosome are observed in several human cancers but their functional and therapeutic significance remain elusive. SF3B1, the most frequently mutated component of the spliceosome in cancer, is involved in the recognition of the branch point sequence (BPS) during selection of the 3’ splice site (ss) in RNA splicing. Here, we report that common and tumor-specific...

Subject

Mutation

Nonsense Mediated mRNA Decay

RNA Splicing

Spliceosomes

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