Hereditary cancer genes are highly susceptible to splicing mutations
Fig 2
MLH1 ESM affect different stages of spliceosome assembly.
The percentages of mutant mRNA retained in each stage of the assembly relative to wildtype mRNA are shown for all ESM that were identified in MLH1 exon 8 and 15. The majority of ESM were blocked in the transition from A and B complex. Two of the ESM (CM082944 and CM04546) in exon 8 also slowed down the final transesterification reactions to yield spliced mRNA and the lariat.