Počet záznamů: 1

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

  1. 1.
    0333655 - UMG-J 2010 RIV GB eng J - Článek v odborném periodiku
    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
    Výzkumný záměr: CEZ:AV0Z50520514
    Klíčová slova: mutation * cryptic splice site * exon skipping
    Kód oboru RIV: EB - Genetika a molekulární biologie
    Impakt faktor: 3.564, rok: 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.
    Trvalý link: http://hdl.handle.net/11104/0178594