Ancestral intronic splicing regulatory elements in the SCN<i>α</i> gene family.

ABSTRACT: SCNα genes encode components of voltage-gated sodium channels that are crucial for generating electrical signals. Humans have ten paralogous SCNα genes, some of which contain duplicated mutually exclusive exons 5a and 5b. In reconstructing their evolutionary history, we found multiple unannotated copies of exon 5 in distant species and showed that exon 5 duplication goes back to a common ancestor of the SCNα gene family. We characterized splicing patterns of exons 5a and 5b across tissues, tumors, and developmental stages, and demonstrated that the nonsense mediated decay (NMD) system is not the major factor contributing to their mutually exclusive choice. Comparison of SCN2A, SCN3A, SCN5A, and SCN9A intronic nucleotide sequences revealed mu

SUBMITTER: Chernyavskaya E 

PROVIDER: S-EPMC12772994 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature