The mouse Arhgef6 gene:: cDNA sequence, expression analysis, and chromosome assignment
The mouse Arhgef6 gene:: cDNA sequence, expression analysis, and chromosome assignment
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DOI：
10.1159/000059346
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发表时间：
2001-01-01
期刊：
影响因子：
--
通讯作者：
Gal, A
中科院分区：
文献类型：
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作者：
Kutsche, K;Gal, A
ARHGEF 6基因突变编码Rho GTPases的鸟嘌呤核苷酸交换因子，已被证明可导致人类X染色体非特异性精神发育迟滞（MRX）。在这里，我们报告的orthopathic小鼠基因，Arhgef 6的鉴定和表征。约4.4 kb的基因转录本存在于各种小鼠组织中，表明如在人ARHGEF 6中发现的普遍表达。开放阅读框编码与人ARHGEF 6具有高度同源性的771个氨基酸的多肽。两种蛋白质的结构基序是保守的，包括N-末端CH结构域，随后是SH 3结构域，以及DH和PH结构域的串联组织。时间表达模式的分析表明，Arhgef 6是强烈表达在非常早期的胚胎和稍少，在后期阶段。已分离出含有Arhgef 6外显子1和2的基因组粘粒克隆，并用于在小鼠X染色体上定位该基因。版权所有（C）2002 S. Karger AG，巴塞尔。
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. Copyright (C) 2002 S. Karger AG, Basel.