lapspliceyhteenliittymät

Lapspliceyhteenliittymät, often referred to as splice sites in English, are crucial recognition sequences within a gene that are recognized by the spliceosome during the process of RNA splicing. These sequences mark the boundaries between introns (non-coding regions) and exons (coding regions) in pre-messenger RNA (pre-mRNA). The precise recognition of these splice sites is essential for generating a mature messenger RNA (mRNA) molecule that can be correctly translated into a functional protein.

The most conserved splice site sequences in eukaryotes are the 5' splice site (donor site) and the 3' splice site (acceptor site). The 5' splice site is located at the beginning of an intron, and the 3' splice site is located at the end of an intron. A third important element is the branch point adenine, typically located upstream of the 3' splice site. The spliceosome, a large and dynamic molecular machine composed of small nuclear ribonucleoproteins (snRNPs) and auxiliary proteins, binds to these sequences to catalyze the removal of introns and the ligation of exons. Errors in splice site recognition can lead to the inclusion of intronic sequences or the skipping of exonic sequences in the mature mRNA, resulting in non-functional or altered proteins, and can be implicated in various genetic diseases.