The mouse Arhgef6 gene: cDNA sequence, expression analysis, and chromosome assignmentKutsche K. · Gal A.
Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg (Germany)
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, have been shown to cause X-chromosomal non-specific mental retardation (MRX) in human. Here we report the identification and characterization of the orthologous mouse gene, Arhgef6. The gene transcript of approximately 4.4 kb is present in various mouse tissues indicating ubiquitous expression as found for human ARHGEF6. The open reading frame encodes a polypeptide of 771 amino acids with high homology to human ARHGEF6. The structural motifs of both proteins are conserved including an N-terminal CH domain, followed by an SH3 domain, and a tandem organization of the DH and PH domains. Analysis of the temporal expression pattern revealed that Arhgef6 is strongly expressed in the very early embryo and somewhat less in later stages. A genomic cosmid clone containing Arhgef6 exons 1 and 2 has been isolated and used for mapping the gene on the mouse X chromosome.
© 2002 S. Karger AG, Basel
Request reprints from Kerstin Kutsche, PhD
Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf
Butenfeld 42, D–22529 Hamburg (Germany)
telephone: ++49 40 42803 4597; fax: ++49 40 42803 5138
Supported by a grant from the Deutsche Forschungsgemeinschaft (SFB444/Grundlagen neuraler Kommunikation und Signalverarbeitung).
Received: Received 13 September 2001;
revision accepted 9 January 2002.
Number of Print Pages : 6
Number of Figures : 3, Number of Tables : 0, Number of References : 24
Cytogenetics and Cell Genetics
Founded 1962 as Cytogenetics by H.P. Klinger
Vol. 95, No. 3-4, Year 2001 (Cover Date: 2001)
Journal Editor: H.P. Klinger, Bronx, N.Y.; M. Schmid, Würzburg
ISSN: 0301–0171 (print), 1422–9816 (Online)
For additional information: http://www.karger.com/journals/ccg