Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene

Mol Cell. 2001 Apr;7(4):823-32. doi: 10.1016/s1097-2765(01)00226-x.

Abstract

The PKD1 gene accounts for 85% of autosomal dominant polycystic kidney disease (ADPKD), the most common human genetic disorder. Rats with a germline inactivation of one allele of the Tsc2 tumor suppressor gene developed early onset severe bilateral polycystic kidney disease, with similarities to the human contiguous gene syndrome caused by germline codeletion of PKD1 and TSC2 genes. Polycystic rat renal cells retained two normal Pkd1 alleles but were null for Tsc2 and exhibited loss of lateral membrane-localized polycystin-1. In tuberin-deficient cells, intracellular trafficking of polycystin-1 was disrupted, resulting in sequestration of polycystin-1 within the Golgi and reexpression of Tsc2 restored correct polycystin-1 membrane localization. These data identify tuberin as a determinant of polycystin-1 functional localization and, potentially, ADPKD severity.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Animals
  • Carcinoma, Renal Cell*
  • Cell Membrane / metabolism
  • Epithelial Cells / cytology
  • Epithelial Cells / metabolism
  • Genes, Tumor Suppressor / physiology
  • Golgi Apparatus / metabolism
  • Kidney Neoplasms*
  • Proteins / genetics
  • Proteins / metabolism*
  • Rats
  • Repressor Proteins / genetics*
  • Repressor Proteins / metabolism*
  • TRPP Cation Channels
  • Transfection
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Cells, Cultured
  • Tumor Suppressor Proteins

Substances

  • Proteins
  • Repressor Proteins
  • TRPP Cation Channels
  • TSC2 protein, human
  • Tsc2 protein, rat
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins
  • polycystic kidney disease 1 protein