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Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.
The data suggest that the TJ complex at the apex of the reticular lamina requires claudin 14 as a cation-restrictive barrier to maintain the proper ionic composition of the fluid surrounding the basolateral surface of outer hair cells.
The Tip-Link Antigen, a Protein Associated with the Transduction Complex of Sensory Hair Cells, Is Protocadherin-15
The tip-link antigen is identified as an avian ortholog of human protocadherin-15, a hitherto unidentified antigen specifically associated with the tip and kinocilial links of sensory hair bundles in the inner ear and the ciliary calyx of photoreceptors in the eye.
Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia
It is demonstrated that if green fluorescent protein (GFP)-Myo15a is transfected into hair cells of Myo15ash2 mice, the wild-type pattern of hair bundles is restored by recruitment of endogenous whirlin to the tips of stereocilia.
Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.
The ultrastructural defects seen in the Pds(-/-) mice provide important clues about the mechanisms responsible for the inner-ear pathology associated with PDS mutations.
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
It is reported that non-syndromic recessive hearing loss (DFNB23) is caused by missense mutations of PCDH15, and the results further strengthen the importance of protocadherin 15 in the morphogenesis and cohesion of stereocilia bundles and retinal photoreceptor cell maintenance or function.
Expression and Localization of Prestin and the Sugar Transporter GLUT-5 during Development of Electromotility in Cochlear Outer Hair Cells
- I. Belyantseva, H. J. Adler, R. Curi, G. Frolenkov, B. Kachar
- BiologyThe Journal of Neuroscience
- 15 December 2000
The results suggest that, although GLUT-5 may be involved in the control of electromotility, prestin is likely to be a fundamental component of the OHC membrane motor mechanism.
Mutations in Cdh23, encoding a new type of cadherin, cause stereocilia disorganization in waltzer, the mouse model for Usher syndrome type 1D
The identification of a new gene mutated in v, called otocadherin, which encodes a very large, single-pass transmembrane protein, that is a critical component of hair bundle formation is reported and it is shown that during early hair-cell differentiation, stereocilia organization is disrupted in v2J homozygotes.
Spatiotemporal pattern and isoforms of cadherin 23 in wild type and waltzer mice during inner ear hair cell development.
Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice
- F. Di Palma, I. Belyantseva, Hung J. Kim, T. Vogt, B. Kachar, K. Noben-Trauth
- BiologyProceedings of the National Academy of Sciences…
- 25 October 2002
The data suggest that Mcoln3 is involved in ion homeostasis and acts cell-autonomously in hair cell physiology and melanocyte function, and MCOLN2 and MCN3 are candidate genes for hereditary and/or sporadic forms of neurosensory disorders in humans.
Tricellulin is a tight-junction protein necessary for hearing.
It is shown that, in humans, four different recessive mutations of TRIC cause nonsyndromic deafness (DFNB49), a surprisingly limited phenotype, given the widespread tissue distribution of tricellulin in epithelial cells.