Summary
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.
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Just, W., Geerkens, C., Held, K.R. et al. Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome. Hum Genet 89, 240–242 (1992). https://doi.org/10.1007/BF00217131
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DOI: https://doi.org/10.1007/BF00217131