WT1 activates a glomerular-specific enhancer identified from the human nephrin gene

J Am Soc Nephrol. 2004 Nov;15(11):2851-6. doi: 10.1097/01.ASN.0000143474.91362.C4.

Abstract

The glomerular filtration barrier separates the blood from the urinary space. Nephrin is a transmembrane protein that belongs to the immunoglobulin superfamily and is localized to the slit diaphragms that are a critical component of this filtration barrier. Mutations in the nephrin gene (NPHS1) lead to congenital Finnish nephropathy, whereas alterations in the level of nephrin expression have been identified in a wide range of acquired glomerular diseases. A 186-bp fragment from the human NPHS1 promoter is capable of directing podocyte-specific expression of a beta-galactosidase transgene when placed in front of a heterologous minimal promoter in transgenic mice. The Wilms tumor suppressor gene (WT1) is a zinc-finger-containing transcription factor that is coexpressed with NPHS1 in differentiated podocytes; gel shift binding assays demonstrate that a recombinant WT1 protein can bind and activate the 186-bp NPHS1 fragment in a sequence-specific manner. Taken together, these results suggest that WT1 may be required for regulation of the NPHS1 gene in vivo.

Publication types

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

MeSH terms

  • Animals
  • Enhancer Elements, Genetic / drug effects*
  • Enhancer Elements, Genetic / physiology
  • Gene Expression
  • Gene Expression Regulation
  • Genes, Reporter
  • Humans
  • Kidney Glomerulus / metabolism*
  • Lac Operon / genetics
  • Luciferases / genetics
  • Membrane Proteins
  • Mice
  • Mice, Inbred ICR
  • Mice, Transgenic
  • Proteins / genetics*
  • Transgenes / drug effects
  • WT1 Proteins / pharmacology*
  • WT1 Proteins / physiology
  • beta-Galactosidase / metabolism

Substances

  • Membrane Proteins
  • Proteins
  • WT1 Proteins
  • nephrin
  • Luciferases
  • beta-Galactosidase