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 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.
","abstract_html":"<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>","abstract_has_math":false,"creators":["Steigelman, Katherine Ann"],"institution":null,"degree_name":"Doctor of Philosophy (PhD)","degree_level":"Dissertation","degree_discipline":"Biomedical Sciences","degree_department":null,"school":null,"contributors":["Jian Zuo, Ph.D."],"advisors":[],"committee_chairs":[],"committee_members":[],"year":2010,"date_issued":"2010-12-01T08:00:00Z","date_published":"2010-12-01T08:00:00Z","updated_at":"2026-07-24T05:00:17Z","subjects":["hair cells","mechanoeletrical transduction channel","polycystic kidney disease","polycystin-1","stereocilia","Medical Genetics","Medical Sciences","Medicine and Health Sciences"],"languages":[],"rights":[],"rights_urls":[],"identifier_entries":[]},"links":{"outbound_url":"https://dc.uthsc.edu/dissertations/253","outbound_label":"Repository record","outbound_source":"dc:identifier"},"metadata_groups":[{"id":"people","label":"People","entries":[{"key":"dc:contributor","label":"Contributor","values":["Jian Zuo, Ph.D."]},{"key":"dc:creator","label":"Author","values":["Steigelman, Katherine Ann"]}]},{"id":"academic_context","label":"Academic Context","entries":[{"key":"dc:date.available","label":"Dc Date Available","values":["2016-06-15T07:00:00Z"]},{"key":"thesis:degree_discipline","label":"Discipline","values":["Biomedical Sciences"]},{"key":"thesis:degree_level","label":"Degree Level","values":["Dissertation"]},{"key":"thesis:degree_name","label":"Degree Name","values":["Doctor of Philosophy (PhD)"]}]},{"id":"subjects_keywords","label":"Subjects and Keywords","entries":[{"key":"dc:subject","label":"Dc Subject","values":["hair cells","mechanoeletrical transduction channel","polycystic kidney disease","polycystin-1","stereocilia","Medical Genetics","Medical Sciences","Medicine and Health Sciences"]}]},{"id":"identifiers","label":"Identifiers","entries":[{"key":"dc:identifier","label":"Identifier","values":["https://dc.uthsc.edu/dissertations/253"]}]},{"id":"additional","label":"Additional Metadata","entries":[{"key":"dc:description.abstract","label":"Abstract","values":["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 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.
"]},{"key":"dc:title","label":"Title","values":["The Role of Pkd1 in Mouse Inner Ear Hair Cells"]}]}],"canonical_facts":{"dc:contributor":["Jian Zuo, Ph.D."],"dc:creator":["Steigelman, Katherine Ann"],"dc:date.available":["2016-06-15T07:00:00Z"],"dc:description.abstract":["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 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.
"],"dc:identifier":["https://dc.uthsc.edu/dissertations/253"],"dc:subject":["hair cells","mechanoeletrical transduction channel","polycystic kidney disease","polycystin-1","stereocilia","Medical Genetics","Medical Sciences","Medicine and Health Sciences"],"dc:title":["The Role of Pkd1 in Mouse Inner Ear Hair Cells"],"thesis:degree_discipline":["Biomedical Sciences"],"thesis:degree_level":["Dissertation"],"thesis:degree_name":["Doctor of Philosophy (PhD)"]},"updated_at":"2026-07-24T05:00:17Z"}