DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations

Hum Mol Genet. 1995 Mar;4(3):351-8. doi: 10.1093/hmg/4.3.351.

Abstract

Constitutional point mutations in the zinc finger (ZF) region of the Wilms' tumour suppressor gene 1 (WT1) lead to Denys-Drash syndrome (DDS). Patients with this syndrome display renal failure, Wilms' tumour (WT) and pseudohermaphroditism. DDS WT1 mutations fall into three major categories: (a) missense mutations altering amino acids which directly interact with the DNA target; (b) substitution of amino acids involved in zinc complexing; and (c) nonsense mutations leading to the removal of at least two zinc fingers. We have expressed the WT1 zinc fingers as glutathione-S-transferase fusion proteins, with the lysine-threonine-serine (KTS) alternate splice between ZF3 and ZF4 either present or absent. WT1 fusion constructs with all three classes of DDS mutation were also created. Wild-type and mutant fusion proteins were assayed for their DNA-binding affinity using four previously identified WT1 DNA targets: an EGR1 consensus site; murine insulin-like growth factor 2 promoter 2 (IGF2P2); a (TCC)n motif from the PDGFA-chain promoter; and +P5, a genomic fragment isolated by its affinity for WT1 + KTS. WT1-KTS bound all four targets, but WT1 + KTS only bound +P5. All three classes of DDS mutation investigated, with or without KTS, abolished binding to all four targets. This provides evidence that DDS mutations act either as dominant-negative antimorphs, or elicit their effect through disturbed isoform dosage balance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Alternative Splicing
  • Amino Acid Sequence
  • Base Sequence
  • Blotting, Western
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism*
  • Disorders of Sex Development / genetics*
  • Genitalia / abnormalities
  • Glutathione Transferase / metabolism
  • Gonadoblastoma / genetics
  • Humans
  • Kidney Neoplasms / genetics
  • Male
  • Molecular Sequence Data
  • Point Mutation*
  • Promoter Regions, Genetic
  • Recombinant Fusion Proteins / metabolism
  • Renal Insufficiency / genetics
  • Syndrome
  • Transcription Factors / genetics
  • Transcription Factors / metabolism*
  • WT1 Proteins
  • Zinc Fingers / physiology*

Substances

  • DNA-Binding Proteins
  • Recombinant Fusion Proteins
  • Transcription Factors
  • WT1 Proteins
  • Glutathione Transferase