title: Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome.
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.
authors.affiliation: Abteilung für Klinische Genetik der Universität, Ulm, Federal Republic of Germany.
authors.forename: W
authors.initials: W
authors.lastname: Just
authors.forename: C
authors.initials: C
authors.lastname: Geerkens
authors.forename: K R
authors.initials: KR
authors.lastname: Held
authors.forename: W
authors.initials: W
authors.lastname: Vogel
mesh_terms: D001483:Base Sequence; D015152:Blotting, Northern; D002478:Cells, Cultured; D002869:Chromosome Aberrations; D004303:Dosage Compensation, Genetic; D005347:Fibroblasts; D006801:Humans; D008969:Molecular Sequence Data; D005810:Multigene Family / Q000235:genetics; D009838:Oligodeoxyribonucleotides / Q000235:genetics; D012269:Ribosomal Proteins / Q000235:genetics*; D014158:Transcription, Genetic / Q000235:genetics; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome
chemical_list: D009838:Oligodeoxyribonucleotides; D012269:Ribosomal Proteins; C031798:ribosomal protein S4