Splice-site mutations are genetic variants that disrupt the signals required for accurate RNA splicing. They can cause exon skipping, intron retention, cryptic splice-site activation, abnormal mRNA production, and changes in protein expression.
Alternative 5′ and 3′ splice sites allow cells to select different boundaries during RNA splicing, producing mature RNA transcripts with different structures. Learn how spliceosomes, splicing factors, and regulatory sequences control alternative splice-site selection and influence gene expression.
Exon skipping is a form of alternative RNA splicing in which one or more exons are excluded from mature mRNA. Learn how splice sites, splicing factors, and regulatory elements control exon inclusion and skipping and how this process affects gene expression and protein diversity.
Splice-site mutations are genetic variants that disrupt the signals required for accurate RNA splicing. They can cause exon skipping, intron retention, cryptic splice-site activation, abnormal mRNA production, and changes in protein expression.
Alternative 5′ and 3′ splice sites allow cells to select different boundaries during RNA splicing, producing mature RNA transcripts with different structures. Learn how spliceosomes, splicing factors, and regulatory sequences control alternative splice-site selection and influence gene expression.
Exon skipping is a form of alternative RNA splicing in which one or more exons are excluded from mature mRNA. Learn how splice sites, splicing factors, and regulatory elements control exon inclusion and skipping and how this process affects gene expression and protein diversity.
