剪切位点预测方法.pdfVIP

Splice Site Tools A Comparative Analysis Report Beth Hellen Splice Site Tools Analysis Report November 2009 Contents Introduction 3 Methods 4 Results 5 Conclusions 9 References 10 Appendix 1 Variants found in literature 11 2 Splice Site Tools Analysis Report November 2009 Introduction Splicing is a process which modifies mRNA after transcription. It allows for introns to be removed and exons joined together to form mature mRNA, ready for translation into protein. The splice site junction, found where an intron meets an exon, contains multiple sequence motifs. These motifs provide signals to allow for correct splicing to occur. The best characterised of these are the acceptor and donor splice site signals. These signals consist of invariant dinucleotides at positions +1, +2, -1 and -2 of the intron and less well conserved nucleotides both within the immediate adjoining exonic sequence and deeper into the intron from the +3 and -3 positions (Seif et al., 1979). The specific splicing of a gene can be easily affected by mutations in the sequence surrounding the splice site junction. This can lead to alternate splicing and thus adversely affect the translated protein (Novoyatleva et al., 2006; Tazi et al., 2009). In-silico splice site prediction tools can be used to predict the effect of a genetic variant on splicing. A large number