Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements. Issue 11 (18th September 2013)

• Record Type: Journal Article
• Authors: Di Giacomo, Daniela; Gaildrat, Pascaline; Abuli, Anna; Abdat, Julie; Frébourg, Thierry; Tosi, Mario; Martins, Alexandra
• Is Part Of: Human mutation. Volume 34:Issue 11(2013:Nov.)
• Page Start: 1547
• Page End: 1557
• Publication Date: 2013-09-18
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22428
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22428-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Exonic variants can alter pre‐mRNA splicing not only by directly changing splice site sequences but also by modifying splicing regulatory elements, effects that are often difficult to predict. This work, based on minigene assays, revealed that 11 out of the 36 sequence variants identified in BRCA2 exon 7 are splicing regulatory mutations. We also found that the impact of these mutations could be efficiently predicted by a new in silico approach based on recently established hexamer scores. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3j6prnjt" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>