Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes.
Nechama WiederElston N D'SouzaAlexandra C Martin-GearyFrederik H LassenJonathan Talbot-MartinMaria FernandesSonia P ChothaniOwen J L RackhamSebastian SchaferJulie L AspdenDaniel G MacArthurRobert W DaviesNicola WhiffinPublished in: Genome biology (2024)
Our results confirm the importance of post-transcriptional regulation through 5'UTRs in tight regulation of mRNA and protein levels, particularly for genes where changes in dosage are deleterious and lead to disease. Finally, to support gene-based investigation we release a web-based browser tool, VuTR, that supports exploration of the composition of individual 5'UTRs and the impact of genetic variation within them.