Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.

ABSTRACT: Non-canonical splice site variants are increasingly recognized as a relevant cause of the USH2A-associated diseases, non-syndromic autosomal recessive retinitis pigmentosa and Usher syndrome type 2. Many non-canonical splice site variants have been reported in public databases, but an effect on pre-mRNA splicing has only been functionally verified for a subset of these variants. In this study, we aimed to extend the knowledge regarding splicing events by assessing a selected set of USH2A non-canonical splice site variants and to study their potential pathogenicity. Eleven non-canonical splice site variants were selected based on four splice prediction tools. Ten different USH2A constructs were generated and minigene splice assays were performed in HEK293T cells. An eff

SUBMITTER: Reurink J 

PROVIDER: S-EPMC9654511 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature