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

Abstract:

: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.

journal_name

Nat Commun

journal_title

Nature communications

authors

Wu X,Ivanchenko MV,Al Jandal H,Cicconet M,Indzhykulian AA,Corey DP

doi

10.1038/s41467-019-11712-w

subject

Has Abstract

pub_date

2019-08-23 00:00:00

pages

3801

issue

1

issn

2041-1723

pii

10.1038/s41467-019-11712-w

journal_volume

10

pub_type

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