Article

<i>TP53</i> minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact

2024-10-11

Abstract excerpt

<h4>ABSTRACT</h4> Germline TP53 genetic variants that disrupt splicing are implicated in hereditary cancer predisposition, while somatic variants contribute to tumorigenesis. We investigated the role of TP53 splicing regulatory elements (SREs), including G-runs that act as intronic splicing enhancers, using exons 3 and 6 and their downstream introns as models. Minigene microdeletion assays revealed four SRE-ric...

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Literature Corpus work: 5b394645-b640-5724-af98-97ac9e0fb15d
DOI: 10.1101/2024.10.07.617118

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