The Role of Pkd1 in Mouse Inner Ear Hair Cells

<p>The <em>polycystic kidney disease-1</em> (<em>Pkd1</em>) 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 adult ages. These findings indicate that PC-1 plays an essential role in stereocilia structure and maintenance, but not directly in MET channel function and planar cell polarity. We also demonstrate that PC-1 is co-localized with F-actin in hair cell stereocilia as well as with the actin based microvilli in a renal epithelia cell line. These results not only provide a unique hair cell stereocilia phenotype, but also ultimately may lead to a further understanding of the mechanisms behind polycystic kidney disease.</p>

Name thesis:degree_name

Doctor of Philosophy (PhD)

Level thesis:degree_level

Dissertation

Discipline thesis:degree_discipline

Biomedical Sciences

Year dc:date.available

2010

Author dc:creator

• Steigelman, Katherine Ann

Contributors dc:contributor

• Jian Zuo, Ph.D.

• hair cells
• mechanoeletrical transduction channel
• polycystic kidney disease
• polycystin-1
• stereocilia
• Medical Genetics
• Medical Sciences
• Medicine and Health Sciences

Repository record dc:identifier

https://dc.uthsc.edu/dissertations/253

OAI identifier oai:identifier

oai:dc.uthsc.edu:dissertations-1252