Publication details

Effect of substituents in the first nucleotide of exon on pre-mRNA splicing

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Year of publication 2015
Type Conference abstract
MU Faculty or unit

Central European Institute of Technology

Description AG/G sequence is highly conserved part of acceptor splice site, which is essential for pre-mRNA splicing. Mutations in the first nucleotide of exon (E+1) affect splicing in AG-dependent 3´splice sites while AG-independent splice sites are resistant. However, AG-dependence may be difficult to recognize just from primary sequence data. Recently, Fu et al. suggested that the length of polypirimidine tract (PPT) is the best attribute helping determine the AG-dependence and thus the effect of E+1 mutation on splicing. Nevertheless, in our previous work we found a significant difference between the occurrence of G>A and G>T mutations in the group of splicing-affecting E+1 mutations, despite variable length of PPT in the studied splice sites. Now we have tested the effect of different substituting nucleotides at E+1 position in the same exons. The results demonstrated that various substituents have different influence on splicing, at least at quantitative level. From these results we assume that the nature of substituting nucleotide in the E+1 position can be significant feature for determining the effect of the mutation on splicing.
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