BaxΔ2 Family Alternative Splicing Salvages Bax Microsatellite-Frameshift Mutations.

ABSTRACT: Mutation or aberrant splicing can interrupt gene expression. Tumor suppressor Bax is one of the susceptible genes prone to microsatellite frameshifting mutations in coding regions. As a result, tumors exhibiting microsatellite instability (MSI) often present a "Bax-negative" phenotype. We previously reported that some Bax-negative cells in fact contain a functional Bax isoform (BaxΔ2), generated when unique alternative splicing "salvages" the shifted reading frame introduced by a microsatellite mutation. Here we compared Bax alternative splicing profiles in a range of cell lines and primary tumors with and without Bax microsatellite mutations. We found that MSI tumors exhibit a high Bax alternative splicing frequency, especially in exon 2, and produce a family of alternatively spliced isof

SUBMITTER: Haferkamp B 

PROVIDER: S-EPMC3877669 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature