Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain.

ABSTRACT:

Background

Genetic variants in the voltage-gated sodium channels SCN1A, SCN2A, SCN3A, and SCN8A are leading causes of epilepsy, developmental delay, and autism spectrum disorder. The mRNA splicing patterns of all four genes vary across development in the rodent brain, including mutually exclusive copies of the fifth protein-coding exon detected in the neonate (5N) and adult (5A). A second pair of mutually exclusive exons is reported in SCN8A only (18N and 18A). We aimed to quantify the expression of individual exons in the developing human brain.

Methods

RNA-seq data from 783 human brain samples across development were analyzed to estimate exon-level expression. Developmental changes in exon utilization were validated by assessing intron splicing. Exon expression was also es

SUBMITTER: Liang L 

PROVIDER: S-EPMC8383430 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature