Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome

Hum Genet. 1992 May;89(2):240-2. doi: 10.1007/BF00217131.

Abstract

A series of fibroblasts from patients with numerical or structural aberrations of the X chromosome were scored for the amount of mRNA of ribosomal protein S4 (RPS4X). Haplo-insufficiency of this gene has been reported previously to be a possible cause of Turner syndrome. Our results show that the transcription rate of RPS4X correlates with the number of gene copies. This confirms earlier findings indicating that this gene escapes X inactivation. In addition, we demonstrate that this applies to structurally aberrant X chromosomes. Our results show that RPS4X does not give rise to a type of haplo-insufficiency in these cases, because it escapes inactivation, even on structurally aberrant X chromosomes from patients with Turner syndrome. We therefore assume that RPS4X is not the most prominent candidate gene for Turner syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Blotting, Northern
  • Cells, Cultured
  • Chromosome Aberrations*
  • Dosage Compensation, Genetic*
  • Fibroblasts
  • Humans
  • Molecular Sequence Data
  • Multigene Family / genetics
  • Oligodeoxyribonucleotides / genetics
  • Ribosomal Proteins / genetics*
  • Transcription, Genetic / genetics
  • Turner Syndrome / genetics*
  • X Chromosome*

Substances

  • Oligodeoxyribonucleotides
  • Ribosomal Proteins
  • ribosomal protein S4