Human ARHGDIG, a GDP-dissociation inhibitor for rho proteins: Genomic structure, sequence, expression analysis, and mapping to chromosome 16p13.3
Human ARHGDIG, a GDP-dissociation inhibitor for rho proteins: Genomic structure, sequence, expression analysis, and mapping to chromosome 16p13.3
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DOI：
10.1006/geno.1998.5482
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发表时间：
1998-10-01
期刊：
影响因子：
4.4
通讯作者：
Higgs, DR
中科院分区：
文献类型：
--
作者：
Adra, CN;Iyengar, AR;Higgs, DR
GDP 解离抑制剂 (GDI) 在调节 GTP 酶活性中起主要作用。我们最近报道了 Rho 相关 GTPases 的新 GDI 的鉴定，名为 RhoGDI gamma。该基因现在被命名为 ARHGDIG；雨果.在这里，在对 ARHGDIG 组织表达的详细分析中，我们观察到整个大脑中的高水平，但存在区域差异。该 mRNA 在肾脏和胰腺中也有高水平存在，在脊髓、胃和垂体中也有中等水平。在检查的其他组织中，mRNA 水平非常低（肺、气管、小肠、结肠、胎盘）或检测不到。对从外分泌胰腺和胰岛分离的总 RNA 进行的 RT-PCR 分析表明，该基因在这两种组织中都有表达。我们还报告了 ARHGDIG 的基因组结构。该基因跨度超过 4 kb，由六个外显子和活内含子组成。上游区域缺乏典型的 TATA 盒，并且包含几个在中枢神经系统发育中活跃的普遍存在的组织特异性因子的假定结合位点。使用 FISH，我们将该基因定位到染色体带 16p13.3。该条带富含与多种人类疾病有关的基因缺失突变体，特别是多囊肾病、α-地中海贫血、结节性硬化症、智力低下和癌症。 RhoGDI gamma 的启动子结构和染色体位置表明了其重要性，并强调需要进一步研究其生物学。 (C) 1998 年学术出版社。
GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activity of GTPases. We recently reported the identification of a new GDI for the Rho-related GTPases named RhoGDI gamma. This gene is now designated ARHGDIG; by HUGO. Here, in a detailed analysis of tissue expression of ARHGDIG, we observe high levels in the entire brain, with regional variations. The mRNA is also present at high levels in kidney and pancreas and at moderate levels in spinal cord, stomach, and pituitary gland. In other tissues examined, the mRNA levels are very low (lung, trachea, small intestine, colon, placenta) or undetectable. RT-PCR analysis of total RNA isolated from exocrine pancreas and islets shows that the gene is expressed in both tissues. We also report the genomic structure of ARHGDIG. The gene spans over 4 kb and is organized into six exons and live introns. The upstream region lacks a canonical TATA box and contains several putative binding sites for ubiquitous and tissue-specific factors active in central nervous system development. Using FISH, we have mapped the gene to chromosome band 16p13.3. This band is rich in deletion mutants of genes involved in several human diseases, notably polycystic kidney disease, alpha-thalassemia, tuberous sclerosis, mental retardation, and cancer. The promoter structure and the chromosomal location of RhoGDI gamma suggest its importance and underscore the need for further investigation into its biology. (C) 1998 Academic Press.