RESEARCH ARTICLE
is essential for the integrity of stereociliary rootlet in cochlear hair cells in mice
. School of Life Science, Shandong University, Jinan 250100, China.. Rizhao Polytechnic, Rizhao 276826, China.. The Second Hospital of Shandong University, Jinan 250033, China.. Electron Microscopy Laboratory, Shandong Institute of Otolaryngology, Jinan 250022, China.. Laboratory of Electron Microscopy, Jinan WEI-YA Biotech Company, Jinan 250100, China.. Department of Otolaryngology-Head and Neck Surgery, Provincial Hospital Affiliated to Shandong University, Jinan 250021, China
录用日期：
2018-08-31
发布日期：
2018-08-31
摘要
encodes the taperin protein, which is concentrated in the tapered region of hair cell stereocilia in the inner ear. In humans, mutations cause autosomal recessive nonsyndromic deafness (DFNB79) by an unknown mechanism. To determine the role of in hearing, we generated -null mice by clustered regularly interspaced short palindromic repeat/Cas9 genome-editing technology from a CBA/CaJ background. We observed significant hearing loss and progressive degeneration of stereocilia in the outer hair cells of -null mice starting from postnatal day 30. Transmission electron microscopy images of stereociliary bundles in the mutant mice showed some stereociliary rootlets with curved shafts. The central cores of the stereociliary rootlets possessed hollow structures with surrounding loose peripheral dense rings. Radixin, a protein expressed at stereocilia tapering, was abnormally dispersed along the stereocilia shafts in null mice. The expression levels of radixin and -actin significantly decreased. We propose that is critical to the retention of the integrity of the stereociliary rootlet. Loss of in -null mice caused the disruption of the stereociliary rootlet, which resulted in damage to stereociliary bundles and hearing impairments. The generated -null mice are ideal models of human hereditary deafness DFNB79.
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