Title
Characterization of the murine **Dfna5** promoter and regulatory regionsCharacterization of the murine **Dfna5** promoter and regulatory regions
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Research group
Human molecular genetics
Publication type
article
Publication
Amsterdam,
Subject
Biology
Human medicine
Source (journal)
Gene. - Amsterdam
Volume/pages
432(2009):1-2, p. 82-90
ISSN
0378-1119
ISI
000263712400011
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
Mutations in DFNA5 cause a non-syndromic autosomal dominant type of hearing loss. Although not much is known regarding the physiological function of DFNA5, it is not only related to hearing loss. A clear link with cancer exists. For example, methylation of the 5 flanking region of DFNA5 was detected in breast, colorectal and gastric cancer. So far, this 5 flanking region has not been studied in detail. Here, we describe the identification of the cochlear transcription initiation site (TIS), the identification of the core promoter region between −120 and +70 relative to the TIS and the identification of an enhancer (between −121 and −356 bp) and a silencer element (between −356 and −670 bp). Results were similar in HEK293 cells and in the organ of Corti cell line OC-k3. Transfection with a reversely-oriented construct resulted in high transcriptional activity. We subsequently confirmed this antisense activity and identified a novel antisense transcript partly overlapping Dfna5
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