Alternative splicing

Alternative splicing produces different mature messenger RNAs from one pre-messenger RNA by selecting different combinations of splice sites. It expands transcript and protein diversity without requiring additional genes.

Spliceosome: A dynamic ribonucleoprotein complex that removes introns from precursor messenger RNA. It recognizes splice sites and carries out the RNA-cutting and joining steps.
Pre-messenger RNA: The initial RNA transcript that undergoes processing to become mature messenger RNA. Alternative splicing acts on this precursor before it becomes a mature transcript.
Spinal muscular atrophy: A genetic disorder involving degeneration of motor neurons, commonly caused by insufficient functional SMN protein. Its treatment can alter SMN2 splicing to increase production of functional protein.
Protein isoform: One of several related protein forms produced from the same gene or by post-translational modification. Some alternatively spliced transcripts encode proteins with distinct domain combinations.
Exon skipping: An alternative splicing pattern in which an exon is omitted from the mature RNA. It is a common way splice-site choices create transcripts with different exon content.
Intron: A segment of a gene transcript removed during RNA splicing. Alternative splice choices determine which intron boundaries are used or retained.
Nusinersen: An antisense oligonucleotide medicine used to treat spinal muscular atrophy by modifying SMN2 RNA splicing. It demonstrates that a splice choice can be deliberately changed as therapy.
nonsense-mediated decay: A cellular pathway that detects and degrades many messenger RNAs containing premature termination codons. Splicing can introduce a premature stop codon that sends a transcript into this pathway.
Alternative 5′ splice-site selection: An alternative splicing pattern that uses different 5′ splice sites within a transcript. Changing the 5′ boundary alters how much sequence is retained in an exon.
Exon: A segment of a gene transcript retained in mature RNA after splicing. Different exon combinations are the most visible outcome of alternative splicing.

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