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@proceedings{1406803,
author = {Lockerová, Pavla and Grodecká, Lucie and Hrnčířová, Kristýna and Freiberger, Tomáš},
booktitle = {ICGEB 3rd Post-EURASNET Symposium “RNA Alternative Splicing”, Trieste, Italy},
keywords = {splicing; AG dependency; E+1 position},
language = {eng},
title = {Effect of substituents in the first nucleotide of exon on pre-mRNA splicing},
year = {2015}
}
TY - CONF
ID - 1406803
AU - Lockerová, Pavla - Grodecká, Lucie - Hrnčířová, Kristýna - Freiberger, Tomáš
PY - 2015
TI - Effect of substituents in the first nucleotide of exon on pre-mRNA splicing
KW - splicing
KW - AG dependency
KW - E+1 position
N2 - 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.
ER -
LOCKEROVÁ, Pavla, Lucie GRODECKÁ, Kristýna HRNČÍŘOVÁ a Tomáš FREIBERGER. Effect of substituents in the first nucleotide of exon on pre-mRNA splicing. In \textit{ICGEB 3rd Post-EURASNET Symposium “RNA Alternative Splicing”, Trieste, Italy}. 2015.
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