Splice donor sequence and splice acceptor sequence

Splice donor and acceptor sequences are short, highly conserved nucleotide motifs at the exon-intron boundaries in eukaryotic genes. The splice donor site is located at the 5' end of the intron and almost always features the dinucleotide "GU" (and less commonly GC or AT), while the splice acceptor site is at the 3' end and is usually "AG". The correct identification and processing of these sites by the spliceosome ensures removal of introns and ligation of exons to create mature mRNA. Mutations in these consensus sequences (splice site mutations) can cause mis-splicing, leading to retention of introns or skipping of exons, often resulting in nonfunctional or deleterious proteins, and are a significant cause of genetic diseases. These sites are not themselves drug targets, but rather regulatory genomic elements critical for normal gene expression and are a focus for genetic diagnosis and gene therapy development.

Other names

canonical splice sites5' splice site (donor site)3' splice site (acceptor site)GT-AG splice siteGC-AG siteAT-AC site