Splicing Dysregulation of Non-Canonical GC-5' Splice Sites of Breast Cancer Susceptibility Genes ATM and PALB2.

ABSTRACT: Background/Objectives: The non-canonical GC-5' splice sites (5'ss) are the most common exception (~1%) to the classical GT/AG splicing rule. They constitute weak 5'ss and can be regulated by splicing factors, so they are especially sensitive to genetic variations inducing the misrecognition of their respective exons. We aimed to investigate the GC-5'ss of the breast/ovarian cancer susceptibility genes, ATM (exon 50), BRIP1 (exon 1), and PALB2 (exon 12), and their dysregulation induced by DNA variants. Methods: Splicing assays of the minigenes, mgATM_49-52, mgBRIP1_1-2, and mgPALB2_5-12, were conducted to study the regulation of the indicated GC-5'ss. Results: A functional map of the splicing regulatory elements (SRE) formed by overlapping exonic mi

SUBMITTER: Llinares-Burguet I 

PROVIDER: S-EPMC11545216 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature