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Medicine and Health Sciences Commons

Open Access. Powered by Scholars. Published by Universities.®

Medical Genetics

University of Tennessee Health Science Center

2010

Polycystin-1

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The Role Of Pkd1 In Mouse Inner Ear Hair Cells, Katherine Ann Steigelman Dec 2010

The Role Of Pkd1 In Mouse Inner Ear Hair Cells, Katherine Ann Steigelman

Theses and Dissertations (ETD)

The polycystic kidney disease-1 (Pkd1) gene encodes a large transmembrane protein (polycystin-1 or PC-1) that is reported to function as a fluid flow-sensor in the kidney. As a member of the transient receptor potential (TRP) family, PC-1 has also been hypothesized to play a role in the elusive mechanoelectrical transduction (MET) channel in inner ear hair cells based on PC-1 role of fluid flow sensing and calcium uptake into renal epithelial cells. However, two independent mouse lines with PC-1 mutations exhibit normal MET channel function despite hearing loss and ultra-structural abnormalities of stereocilia that remain properly polarized at …