Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.

ABSTRACT:

Background

Pre-mRNA splicing is a complex process requiring the identification of donor site, acceptor site, and branch point site with an adjacent polypyrimidine tract sequence. Splicing is regulated by splicing regulatory elements (SREs) with both enhancer and suppressor functions. Variants located in exonic regions can impact splicing through dysregulation of native splice sites, SREs, and cryptic splice site activation. While splicing dysregulation is considered primary disease-inducing mechanism of synonymous variants, its contribution toward disease phenotype of non-synonymous variants is underappreciated.

Methods

In this study, we analyzed 415 disease-causing and 120 neutral F9 exonic point variants including both synonymous and non-synonymous for their effect on spli

SUBMITTER: Katneni UK 

PROVIDER: S-EPMC6687662 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature