Mutations primarily alter the inclusion of alternatively spliced exons.

ABSTRACT: Genetic analyses and systematic mutagenesis have revealed that synonymous, non-synonymous and intronic mutations frequently alter the inclusion levels of alternatively spliced exons, consistent with the concept that altered splicing might be a common mechanism by which mutations cause disease. However, most exons expressed in any cell are highly-included in mature mRNAs. Here, by performing deep mutagenesis of highly-included exons and by analysing the association between genome sequence variation and exon inclusion across the transcriptome, we report that mutations only very rarely alter the inclusion of highly-included exons. This is true for both exonic and intronic mutations as well as for perturbations in trans. Therefore, mutations that affect splicing are not evenly distributed acro

SUBMITTER: Baeza-Centurion P 

PROVIDER: S-EPMC7673789 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature