Pre-mRNA splice site

Pre-mRNA splice sites are short conserved sequences in precursor messenger RNA that mark the beginning (5' splice site or donor site) and end (3' splice site or acceptor site) of introns. They guide the spliceosome in removing non-coding introns and joining the coding exons, enabling the synthesis of mature mRNA. The canonical sequence for the major spliceosome is GU at the 5' splice site and AG at the 3' splice site. Recognition involves a coordinated series of snRNP and protein interactions. Mutations in these sites disrupt normal splicing and are linked to various diseases, including cancer and inherited disorders. While the sequence itself is not a direct drug target, understanding and modifying splice site selection—and the associated protein machinery—has clinical relevance for controlling aberrant splicing in disease.

Other names

5' splice site3' splice sitedonor site (5')acceptor site (3')

Indirect targeting—drugs can inhibit or modulate spliceosome assembly and function, altering splicing fidelity or isoform ratios