PKHD1L1 is a coat protein of hair-cell stereocilia and is required for normal hearing


Xudong Wu, Maryna V. Ivanchenko, Hoor Al Jandal, Marcelo Cicconet, Artur A. Indzhykulian, and David P. Corey. 8/23/2019. “PKHD1L1 is a coat protein of hair-cell stereocilia and is required for normal hearing.” Nature Communications. Publisher's Version
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The bundle of stereocilia on inner ear hair cells responds to subnanometer deflections produced by sound or head movement. Stereocilia are interconnected by a variety of links and also carry an electron-dense surface coat. The coat may contribute to stereocilia adhesion or protect from stereocilia fusion, but its molecular identity remains unknown. From a database of hair-cell-enriched translated proteins, we identify Polycystic Kidney and Hepatic Disease 1-Like 1 (PKHD1L1), a large, mostly extracellular protein of 4249 amino acids with a single transmembrane domain. Using serial immunogold scanning electron microscopy, we show that PKHD1L1 is expressed at the tips of stereocilia, especially in the high-frequency regions of the cochlea. PKHD1L1-deficient mice lack the surface coat at the upper but not lower regions of stereocilia, and they develop progressive hearing loss. We conclude that PKHD1L1 is a component of the surface coat and is required for normal hearing in mice.


Last updated on 11/19/2019