Journal article
DFNA5: hearing impairment exon instead of hearing impairment gene?
Journal of medical genetics, Vol.41(6), pp.401-406
06/2004
DOI: 10.1136/jmg.2003.015073
PMCID: PMC1735793
PMID: 15173223
Abstract
Methods:
We performed transfection experiments in mammalian cell lines (HEK293T and COS-1) with green fluorescent protein (GFP) tagged wildtype and mutant
DFNA5
and analysed cell death with flow cytometry and fluorescence microscopy.
Results:
Post-transfection death of HEK293T cells approximately doubled when cells were transfected with mutant
DFNA5
–GFP compared with wildtype DFNA5–GFP. Cell death was attributed to necrotic events and not to apoptotic events.
Conclusion:
The transfection experiments in mammalian cell lines support our hypothesis that the hearing impairment associated with
DFNA5
is caused by a "gain of function" mutation and that mutant
DFNA5
has a deleterious new function.
Details
- Title: Subtitle
- DFNA5: hearing impairment exon instead of hearing impairment gene?
- Creators
- L Van Laer - Department of Medical Genetics, University of Antwerp, Antwerp, BelgiumK Vrijens - Department of Medical Genetics, University of Antwerp, Antwerp, BelgiumS Thys - Department of Medical Genetics, University of Antwerp, Antwerp, BelgiumV F I Van Tendeloo - Department of Medical Genetics, University of Antwerp, Antwerp, BelgiumR Smith - Department of Medical Genetics, University of Antwerp, Antwerp, BelgiumD R Van Bockstaele - Department of Medical Genetics, University of Antwerp, Antwerp, BelgiumJ Timmermans - Department of Medical Genetics, University of Antwerp, Antwerp, BelgiumG Van Camp - Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
- Resource Type
- Journal article
- Publication Details
- Journal of medical genetics, Vol.41(6), pp.401-406
- DOI
- 10.1136/jmg.2003.015073
- PMID
- 15173223
- PMCID
- PMC1735793
- NLM abbreviation
- J Med Genet
- ISSN
- 0022-2593
- eISSN
- 1468-6244
- Publisher
- BMJ Group
- Language
- English
- Date published
- 06/2004
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006342202771
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