Literature DB >> 14673471

A comparative expression analysis of four MRX genes regulating intracellular signalling via small GTPases.

Matthias Kohn1, Peter Steinbach, Horst Hameister, Hildegard Kehrer-Sawatzki.   

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 alphaPix), 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.

Entities:  

Mesh:

Substances:

Year:  2004        PMID: 14673471     DOI: 10.1038/sj.ejhg.5201085

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  4 in total

Review 1.  Central nervous system functions of PAK protein family: from spine morphogenesis to mental retardation.

Authors:  Bernadett Boda; Irina Nikonenko; Stefano Alberi; Dominique Muller
Journal:  Mol Neurobiol       Date:  2006-08       Impact factor: 5.590

2.  Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome.

Authors:  Frank Tüttelmann; Manuela Simoni; Sabine Kliesch; Susanne Ledig; Bernd Dworniczak; Peter Wieacker; Albrecht Röpke
Journal:  PLoS One       Date:  2011-04-29       Impact factor: 3.240

3.  Origin and evolution of candidate mental retardation genes on the human X chromosome (MRX).

Authors:  Margaret L Delbridge; Daniel A McMillan; Ruth J Doherty; Janine E Deakin; Jennifer A Marshall Graves
Journal:  BMC Genomics       Date:  2008-02-05       Impact factor: 3.969

4.  Characterization of X-linked SNP genotypic variation in globally distributed human populations.

Authors:  Amanda M Casto; Jun Z Li; Devin Absher; Richard Myers; Sohini Ramachandran; Marcus W Feldman
Journal:  Genome Biol       Date:  2010-01-28       Impact factor: 13.583

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.