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Published on: April 19, 2013
2E4/Kaptin (KPTN)--a candidate gene for the hearing loss locus, DFNA4
E L Bearer1, A F Chen, A H Chen
1Department of Pathology and Laboratory Medicine, Brown University, Providence, RI 02912, USA. Elaine_Bearer@Brown.edu
Annals of Human Genetics
|June 21, 2001
Summary
We identified a novel actin-binding protein, 2E4-kaptin (KPTN), in the inner ear stereocilia. While KPTN is a strong candidate for hearing loss, no causative mutations were found in this study.
Area of Science:
- Genetics
- Cell Biology
- Otolaryngology
Background:
- Inner ear stereocilia are crucial for auditory mechanotransduction.
- Actin filaments and actin-binding proteins provide structural support to stereocilia.
Purpose of the Study:
- To investigate the role of a novel actin-binding protein, 2E4-kaptin (KPTN), in inner ear stereocilia structure.
- To determine if KPTN is a candidate gene for autosomal dominant non-syndromic hearing loss (DFNA4).
Main Methods:
- Double label immunofluorescence to visualize KPTN localization in stereocilia.
- Fluorescence in situ hybridization (FISH), radiation hybrid mapping, and YAC screening to map the KPTN gene.
- Genomic structure determination and mutational analysis (direct sequencing, SSCP) of KPTN in families with hearing loss.
Main Results:
- KPTN localizes to the barbed ends of actin filaments at the tips of stereocilia.
- The KPTN gene was mapped to chromosome 19q13.4, a region associated with DFNA4 hearing loss.
- No deafness-causing mutations were identified in the coding region of KPTN in affected families.
Conclusions:
- KPTN is a structural component of inner ear stereocilia and remains a strong candidate gene for hearing loss.
- The murine orthologue of KPTN is also a candidate for the Nijmegan waltzer mouse mutant with hearing and vestibular defects.
