The mouse Arhgef6 gene: cDNA sequence, expression analysis, and chromosome assignment.
Cytogenet Cell Genet
; 95(3-4): 196-201, 2001.
Article
en En
| MEDLINE
| ID: mdl-12063400
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosoma X
/
Proteínas de Ciclo Celular
/
Factores de Intercambio de Guanina Nucleótido
Tipo de estudio:
Prognostic_studies
Límite:
Animals
Idioma:
En
Revista:
Cytogenet Cell Genet
Año:
2001
Tipo del documento:
Article
País de afiliación:
Alemania
Pais de publicación:
Suiza