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Updated: Aug 15, 2026

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
Published on: February 21, 2016
An emilin family extracellular matrix protein identified in the cochlear basilar membrane
Lori L Amma1, Richard Goodyear, Jonathan S Faris
1Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, 1425 Madison Avenue, New York, NY 10029, USA.
Abstract:
The precise movement of the cochlear basilar membrane (BM) stimulates the sensory hair cells during auditory transduction. However, the molecular composition of the BM that confers its specialized properties of support and elasticity is poorly understood. A differential screen of cochlear RNA from deaf mice lacking thyroid hormone receptor beta was used to identify a sequence encoding a secreted protein, which is abundant in the BM and is expressed at low levels in the heart, lung, and brain. The protein possesses several domains for protein interactions and is related to emilin (elastin microfibril interface-located protein) previously isolated from aorta. This cochlear emilin-2 mRNA is expressed in the tympanic border cells underlying the BM and an antibody detected protein in the extracellular matrix surrounding the collagenous fibers in the BM. These results identify emilin-2 as a major BM component and suggest that it contributes to the developmental assembly or function of the BM.
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