splice site


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splice site

The location on a strand of messenger RNA where the molecule can be cut and reannealed during the regulation of protein synthesis by cells.
See also: site
References in periodicals archive ?
Claes K, Poppe 8, Machackova E, Coene I, Foretova L, De Paepe A, Messiaen L Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2 Genes.
The research, titled "Dynamic regulation of alternative splicing by silencers that modulate 5' splice site competition" is published in the latest issue of Cell.
On the other hand, the polymorphism in the polypyrimidine tract in the noncoding intron I near the 3' splice site of the INS (insulin) gene has been reported to affect pre-mRNA splicing and proinsulin secretion.
We used 4 splice site analysis tools to predict the effect on splicing, with conflicting results (Table 1).
These mutations were considered putative disease-causing mutations on the basis of a finding that (a) the affected amino acid was conserved during evolution or (b) a splice site was either created or abolished.
In this study, the goal was not simply to inhibit protein or gene expression but to suppress the faulty splice site by binding an antisense oligonucleotide to it, which would then force the restoration of correct splicing of the mutant pre-mRNA.
These results showed that the mutation we report, for which we suggest the name Bartin, affects pre-mRNA maturation by inactivating the 5' splice site sequence at the 11th exon-intron boundary of the albumin gene, and is a previously unreported mutation causing analbuminemia.
html) predicted that the G[right arrow]A mutation would abolish splicing at the normal donor splice site of intron 9, and activate a cryptic donor site 40 by into the intron.
Alternative splicing by a cryptic acceptor splice site in exon 9 restores the normal reading frame disrupted by the mutation and eliminates the stop codon.
In conclusion, it seems that a suboptimal 5' splice site (donor site) and 3' splice site (branch point, pY tract, and acceptor site) play a major role in intron III retention of these genes.
The mutation occurs 23 positions downstream the 5' splice site in a tract that does not contain conserved sequence elements.