An X chromosome gene, WTX, is commonly inactivated in Wilms tumor

Science. 2007 Feb 2;315(5812):642-5. doi: 10.1126/science.1137509. Epub 2007 Jan 4.

Abstract

Wilms tumor is a pediatric kidney cancer associated with inactivation of the WT1 tumor-suppressor gene in 5 to 10% of cases. Using a high-resolution screen for DNA copy-number alterations in Wilms tumor, we identified somatic deletions targeting a previously uncharacterized gene on the X chromosome. This gene, which we call WTX, is inactivated in approximately one-third of Wilms tumors (15 of 51 tumors). Tumors with mutations in WTX lack WT1 mutations, and both genes share a restricted temporal and spatial expression pattern in normal renal precursors. In contrast to biallelic inactivation of autosomal tumor-suppressor genes, WTX is inactivated by a monoallelic "single-hit" event targeting the single X chromosome in tumors from males and the active X chromosome in tumors from females.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Alleles
  • Amino Acid Sequence
  • Animals
  • Cell Line
  • Chromosome Deletion
  • Chromosomes, Human, X / genetics*
  • Female
  • Gene Expression
  • Gene Silencing*
  • Genes, Wilms Tumor*
  • Heterozygote
  • Humans
  • In Situ Hybridization, Fluorescence
  • Kidney / embryology
  • Kidney / metabolism
  • Kidney Neoplasms / genetics*
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Molecular Sequence Data
  • Mutation
  • Point Mutation
  • Tumor Suppressor Proteins / chemistry
  • Tumor Suppressor Proteins / genetics*
  • Tumor Suppressor Proteins / physiology
  • Wilms Tumor / genetics*
  • beta Catenin / genetics

Substances

  • AMER1 protein, human
  • Adaptor Proteins, Signal Transducing
  • Tumor Suppressor Proteins
  • beta Catenin

Associated data

  • GENBANK/EF186024