Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping

0333655 - ÚMG 2010 RIV GB eng J - Journal Article
Divina, Petr - Kvitkovicova, Andrea - Buratti, E. - Vorechovsky, I.
Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.
European Journal of Human Genetics. Roč. 17, č. 6 (2009), s. 759-765. ISSN 1018-4813. E-ISSN 1476-5438
Institutional research plan: CEZ:AV0Z50520514
Keywords : mutation * cryptic splice site * exon skipping
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 3.564, year: 2009

Using a comprehensive collection of exons that sustained cryptic splice-site activation or were skipped as a result of splice-site mutations, we have developed a multivariate logistic discrimination procedure that distinguishes the two aberrant splicing outcomes from DNA sequences. The new algorithm was validated using an independent sample of exons and implemented as a free online utility termed CRYP-SKIP (http://www.dbass.org.uk/cryp-skip/). The web application provides a list of important predictor variables and their values, the overall probability of activating cryptic splice vs exon skipping, and the location and intrinsic strength of predicted cryptic splice sites in the input sequence. These results will facilitate phenotypic prediction of splicing mutations and provide further insights into splicing enhancer and silencer elements and their relative importance for splice-site selection in vivo.
Permanent Link: http://hdl.handle.net/11104/0178594