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.
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.
