Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

Nat Med. 2009 Sep;15(9):1046-54. doi: 10.1038/nm.2010. Epub 2009 Aug 30.

Abstract

Cystic kidney disease represents a major cause of end-stage renal disease, yet the molecular mechanisms of pathogenesis remain largely unclear. Recent emphasis has been placed on a potential role for canonical Wnt signaling, but investigation of this pathway in adult renal homeostasis is lacking. Here we provide evidence of a previously unidentified canonical Wnt activity in adult mammalian kidney homeostasis, the loss of which leads to cystic kidney disease. Loss of the Jouberin (Jbn) protein in mouse leads to the cystic kidney disease nephronophthisis, owing to an unexpected decrease in endogenous Wnt activity. Jbn interacts with and facilitates beta-catenin nuclear accumulation, resulting in positive modulation of downstream transcription. Finally, we show that Jbn is required in vivo for a Wnt response to injury and renal tubule repair, the absence of which triggers cystogenesis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Vesicular Transport
  • Animals
  • Cilia / physiology
  • Homeostasis
  • Kidney / pathology
  • Kidney / physiopathology*
  • Kidney Diseases, Cystic / etiology*
  • Kidney Diseases, Cystic / pathology
  • Kidney Diseases, Cystic / physiopathology*
  • Mice
  • Mice, Knockout
  • Proto-Oncogene Proteins / deficiency*
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins / physiology
  • Signal Transduction
  • Wnt Proteins / physiology*
  • beta Catenin / physiology*

Substances

  • Adaptor Proteins, Vesicular Transport
  • Ahi1 protein, mouse
  • CTNNB1 protein, mouse
  • Proto-Oncogene Proteins
  • Wnt Proteins
  • beta Catenin