The autosomal recessive polycystic kidney disease protein is localized to primary cilia, with concentration in the basal body area
UMass Chan Affiliations
Department of Cell BiologyDocument Type
Journal ArticlePublication Date
2004-02-24Keywords
AnimalsAntibodies
Cells, Cultured
Cilia
Humans
Kidney Tubules
Mice
Microscopy, Electron
*Polycystic Kidney, Autosomal Recessive
Receptors, Cell Surface
Amino Acids, Peptides, and Proteins
Cell Biology
Cells
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Female Urogenital Diseases and Pregnancy Complications
Genetic Phenomena
Investigative Techniques
Male Urogenital Diseases
Pathology
Tissues
Metadata
Show full item recordAbstract
Recent evidence suggests that structural and functional abnormalities of primary cilia in kidney epithelia are associated with mouse and human autosomal dominant polycystic kidney disease. To determine whether fibrocystin/polyductin/tigmin (FPC), the protein product encoded by the PKHD1 gene that is responsible for autosomal recessive polycystic kidney disease among human subjects, is also a component of primary cilia in the kidney, antipeptide antibodies to the carboxyl-terminal intracellular domain and amino-terminal extracellular domain of FPC were generated and were characterized with immunoblotting and immuno-light and -electron microscopy. Immunolocalization in normal kidney tissue sections and cultured kidney cells demonstrated that FPC was localized to the primary cilia and concentrated on the basal bodies in both kidney tissue sections and cultured kidney cells. The FPC expression pattern was not altered in kidney cells with Pkd1 mutations. These findings suggest that FPC is a functional and/or structural component of primary cilia in kidney tubular cells. It is proposed that the pathogenesis of autosomal recessive polycystic kidney disease is linked to the dysfunction of primary cilia.Source
J Am Soc Nephrol. 2004 Mar;15(3):592-602.
DOI
10.1097/01.ASN.0000113793.12558.1DPermanent Link to this Item
http://hdl.handle.net/20.500.14038/26529PubMed ID
14978161Related Resources
ae974a485f413a2113503eed53cd6c53
10.1097/01.ASN.0000113793.12558.1D