title: Polycystin expression is temporally and spatially regulated during renal development.
abstract: Mutations in PKD1 cause autosomal dominant polycystic kidney disease (ADPKD), a common genetic disease in which cysts form from kidney tubules. The predicted product of this gene is a novel protein with cell-adhesive and membrane-spanning domains. To test the hypothesis that polycystin, the product of the PKD1 gene, is a cell adhesion molecule, we raised antibodies against peptides derived from the unduplicated, membrane-spanning portion of the predicted amino acid sequence. These antibodies recognized membrane-associated polypeptides of 485 and 245 kDa in human fetal kidney homogenates. Expression was greater in fetal than adult kidney by both Western blot analysis and immunofluorescence. In fetal kidney, polycystin was localized to the plasma membranes of ureteric bud and comma and S-shaped bodies. However, in more mature tubules in fetal kidney, in adult kidney, and in polycystic kidney, the majority of polycystin staining was intracellular. The temporal and spatial regulation of polycystin expression during renal development lead us to speculate that polycystin may play a role in nephrogenesis.
authors.affiliation: Department of Medicine, Columbia University, College of Physicians and Surgeons, New York, New York 10032, USA.
authors.forename: J
authors.initials: J
authors.lastname: Van Adelsberg
authors.forename: S
authors.initials: S
authors.lastname: Chamberlain
authors.forename: V
authors.initials: V
authors.lastname: D'Agati
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D019084:Fluorescent Antibody Technique, Indirect; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D007158:Immunologic Techniques; D007668:Kidney / Q000033:anatomy & histology / Q000196:embryology / Q000254:growth & development*; D008562:Membrane Glycoproteins / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D008969:Molecular Sequence Data; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D011506:Proteins / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D050396:TRPP Cation Channels
chemical_list: D008562:Membrane Glycoproteins; D011506:Proteins; D050396:TRPP Cation Channels