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Title
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Characterization of the murine **Dfna5** promoter and regulatory regions
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Author
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Abstract
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| 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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Language
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English
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Source (journal)
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Gene. - Amsterdam
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Publication
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Amsterdam
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2009
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ISSN
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0378-1119
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DOI
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10.1016/J.GENE.2008.11.017
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Volume/pages
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432
:1-2
(2009)
, p. 82-90
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ISI
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000263712400011
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Full text (Publisher's DOI)
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