Abstract
The X chromosomal mental retardation genes have attained high interest in the past. A rough classification distinguishes syndromal mental retardation (MRXS) and nonsyndromal mental retardation (MRX) conditions. The latter are suggested to be responsible for human specific development of cognitive abilities. These genes have been shown to be engaged in chromatin remodelling or in intracellular signalling. During this analysis, we have compared the expression pattern in the mouse of four genes from the latter class of MRX genes: Ophn1, Arhgef6 (also called αPix), Pak3, and Gdi1. Ophn1, Pak3, and Gdi1 show a specific neuronal expression pattern with a certain overlap that allows to assign these signalling molecules to the same functional context. We noticed the highest expression of these genes in the dentate gyrus and cornu ammonis of the hippocampus, in structures engaged in learning and memory. A completely different expression pattern was observed for Arhgef6. In the CNS, it is expressed in ventricular zones, where neuronal progenitor cells are located. But Arhgef6 expression is also found in other non-neural tissues. Our analysis provides evidence that these signalling molecules are involved in different spatio-temporal expression domains of common signalling cascades and that for most tissues considerable functional redundancy of Rho-mediated signalling pathways exists.
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Acknowledgements
We thank Dr Prof Ingrid Reisert, Ulm, for critical reading of the manuscript and Stefanie Fromm for technical assistance. This research was supported by a grant from the Deutsche Forschungsgemeinschaft (HA-1082/16).
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Kohn, M., Steinbach, P., Hameister, H. et al. A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases. Eur J Hum Genet 12, 29–37 (2004). https://doi.org/10.1038/sj.ejhg.5201085
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DOI: https://doi.org/10.1038/sj.ejhg.5201085
