BRCA1 Exon 11, a CERES (Composite Regulatory Element of Splicing) Element Involved in Splice Regulation

BRCA1 Exon 11, a CERES (Composite Regulatory Element of Splicing) Element Involved in Splice Regulation

Unclassified variants (UV) of BRCA1 can affect normal pre-mRNA splicing. Here, we investigate the UV c.693G>A, a “silent” change in BRCA1 exon 11, which we have found induces aberrant splicing in patient carriers and in vitro. Using a minigene assay, we show that the UV c.693G>A has a...

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Bibliographic Details
Main Authors: Claudia Tammaro, Michela Raponi, David I. Wilson, Diana Baralle
Format: Article
Language:English
Published: MDPI AG 2014-07-01
Series:International Journal of Molecular Sciences
Subjects:
BRCA1
splicing
unclassified variant
alternative splicing
minigene
exon 11
Online Access:http://www.mdpi.com/1422-0067/15/7/13045

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