A Massively Parallel Fluorescence Assay to Characterize the Effects of Synonymous Mutations on <i>TP53</i> Expression.

ABSTRACT: Although synonymous mutations can affect gene expression, they have generally not been considered in genomic studies that focus on mutations that increase the risk of cancer. However, mounting evidence implicates some synonymous mutations as driver mutations in cancer. Here, a massively parallel assay, based on cell sorting of a reporter containing a segment of p53 fused to GFP, was used to measure the effects of nearly all synonymous mutations in exon 6 of TP53 In this reporter context, several mutations within the exon caused strong expression changes including mutations that may cause potential gain or loss of function. Further analysis indicates that these effects are largely attributed to errors in splicing, including exon skipping, intron inclusion, and exon truncation, result

SUBMITTER: Bhagavatula G 

PROVIDER: S-EPMC5626615 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature