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

✍ Scribed by Walter Just; Claudia Geerkens; Karsten R. Held; Walther Vogel

• Publisher: Springer
• Year: 1992
• Tongue: English
• Weight: 329 KB
• Volume: 89
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00217131

✦ Synopsis

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.