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Expression of RPS4X in fibroblasts from patients with structural aberrations of the X chromosome (1992)

Just, Walter ; Geerkens, Claudia ; Held, Karsten R. ; [et al.]

Springer

Human genetics 〈Berlin〉 89 (1992), S. 240-242

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ISSN: 1432-1203

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: 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.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00217131

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