RNA splice sites are the locations on a pre-mRNA molecule where splicing occurs to remove introns and splice together exons. The spelling of the word "splice" is /spaɪs/ in IPA phonetic transcription, with the "sp" sound pronounced as in "spoon". The word "sites" is spelled /saɪts/ in IPA, with the "s" sound pronounced as in "snake". RNA splice sites are essential for the proper processing of gene expression and the regulation of genetic information.
RNA splice sites refer to specific sequences within a messenger RNA (mRNA) molecule that signal the splicing process during gene expression. Splicing is a crucial step in protein synthesis, where introns (non-coding regions) are removed and exons (coding regions) are joined together to generate a mature mRNA transcript. The precise recognition and selection of RNA splice sites are essential for successful splicing.
In eukaryotic organisms, such as humans, RNA splice sites typically consist of three main components: a 5' splice site, a branch site, and a 3' splice site. The 5' splice site represents the boundary between the exon and the intron at the beginning of the splicing region. It contains a consensus sequence, usually initiated by a GU dinucleotide, that provides a recognition signal for the spliceosome, a complex of proteins and small nuclear RNAs (snRNAs) responsible for catalyzing the splicing reaction.
The branch site is located upstream of the 3' splice site and includes an adenosine nucleotide. It acts as the nucleophile during the splicing reaction, forming a lariat intermediate structure essential for the removal of the intron. The 3' splice site marks the end of the intron and is characterized by a consensus sequence with an AG dinucleotide, followed by a polypyrimidine tract.
Correct identification and accurate pairing of these distinct splice sites are crucial for regulating alternative splicing, which allows the generation of different mRNA isoforms from a single gene and contributes to the diversity of proteins in an organism. Mutations or alterations in RNA splice sites can lead to errors in splicing, resulting in various genetic diseases and disorders.