Alternative splicing categorizes organ development by stage and reveals unique human splicing variants linked to neuromuscular disorders.

ABSTRACT: Alternative splicing (AS) diversifies protein expression and contributes to species-specific differences in organ development. Here, we focused on stage-specific splicing variants and their correlation with disease in humans compared to mice during brain and heart development. Temporal transcriptomic analysis revealed that splicing factors (SFs) can accurately classify organ developmental stages, and 5 SFs were identified specifically upregulated in humans during organogenesis. Additionally, inter-stage splicing variations were identified across analogous human and mouse developmental stages. Developmentally dynamic alternative splicing genes (devASGs) were enriched in various neurodevelopmental disorders in both species, with the most significant changes observed in human newborn brain an

SUBMITTER: Li C 

PROVIDER: S-EPMC12152634 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature