Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes.

ABSTRACT:

Background

Untranslated regions (UTRs) are important mediators of post-transcriptional regulation. The length of UTRs and the composition of regulatory elements within them are known to vary substantially across genes, but little is known about the reasons for this variation in humans. Here, we set out to determine whether this variation, specifically in 5'UTRs, correlates with gene dosage sensitivity.

Results

We investigate 5'UTR length, the number of alternative transcription start sites, the potential for alternative splicing, the number and type of upstream open reading frames (uORFs) and the propensity of 5'UTRs to form secondary structures. We explore how these elements vary by gene tolerance to loss-of-function (LoF; using the LOEUF metric), and in genes where changes

SUBMITTER: Wieder N 

PROVIDER: S-EPMC11057154 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature