Exon First Nucleotide Mutations in Splicing: Evaluation of In Silico Prediction Tools

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14740%2F14%3A00075261" target="_blank" >RIV/00216224:14740/14:00075261 - isvavai.cz</a>

Alternative codes found

RIV/00209775:_____/14:#0000283

Result on the web

<a href="http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0089570" target="_blank" >http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0089570</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1371/journal.pone.0089570" target="_blank" >10.1371/journal.pone.0089570</a>

Result language

angličtina

Original language name

Exon First Nucleotide Mutations in Splicing: Evaluation of In Silico Prediction Tools

Original language description

Mutations in the first nucleotide of exons (E+1) mostly affect pre-mRNA splicing when found in AG-dependent 39 splice sites, whereas AG-independent splice sites are more resistant. The AG-dependency, however, may be difficult to assess just from primarysequence data as it depends on the quality of the polypyrimidine tract. For this reason, in silico prediction tools are commonly used to score 39 splice sites. In this study, we have assessed the ability of sequence features and in silico prediction tools to discriminate between the splicing-affecting and non-affecting E+1 variants. For this purpose, we newly tested 16 substitutions in vitro and derived other variants from literature. Surprisingly, we found that in the presence of the substituting nucleotide, the quality of the polypyrimidine tract alone was not conclusive about its splicing fate. Rather, it was the identity of the substituting nucleotide that markedly influenced it.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2014

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

PLoS One

ISSN

1932-6203

e-ISSN

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Volume of the periodical

9

Issue of the periodical within the volume

2

Country of publishing house

GB - UNITED KINGDOM

Number of pages

13

Pages from-to

"nestránkováno"

UT code for WoS article

000331717900122

EID of the result in the Scopus database

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