Functional characterization of QT interval associated SCN5A enhancer variants identify combined additive effects.

ABSTRACT: Several empirical and theoretical studies suggest the presence of multiple enhancers per gene that collectively regulate gene expression, and that common sequence variation impacting on the activities of these enhancers is a major source of inter-individual gene expression variability. However, for the vast majority of genes, enhancers and the underlying regulatory variation remains unknown. Even for the genes with well-characterized enhancers, the nature of the combined effects from multiple enhancers and their variants, when known, on gene expression regulation remains unexplored. Here, we have evaluated the combined effects from five SCN5A enhancers and their regulatory variants that are known to collectively correlate with SCN5A cardiac expression and underlie QT interval association i

SUBMITTER: Gunamalai L 

PROVIDER: S-EPMC11532988 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature