Genomic structure, chromosome mapping and expression analysis of the human AXIN2 gene
Genomic structure, chromosome mapping and expression analysis of the human AXIN2 gene
复制标题
DOI：
10.1159/000056942
复制
发表时间：
2001-01-01
期刊：
影响因子：
--
通讯作者：
Liu, W
中科院分区：
文献类型：
--
作者：
Dong, X;Seelan, RS;Liu, W
传导蛋白是一种Wnt信号传导蛋白，是β-连环蛋白稳定性的负调节因子.我们先前已经分离出了鼠传导蛋白基因的人类同源物（AXIN 2），并表明它在结直肠癌（CRC）中突变，并伴有错配修复缺陷（MMR）。在这里，我们报告了详细的基因组结构的cDNA和基因组克隆的分析。该基因的长度大于或等于25 kb，包含10个外显子，范围从96 bp到904 bp。所有剪接供体和受体位点均符合GT/AG规则。FISH（荧光原位杂交）分析将该基因定位于人类染色体带17q24，并显示其在人类基因组中以单拷贝存在。北方印迹分析表明，AXIN 2基因在人胸腺、前列腺中有高表达。睾丸、小肠和卵巢组织中均有表达，结肠组织中表达量较低。这里报告的数据为进一步分析这种重要的Writ信号蛋白在脊椎动物发育和肿瘤发生中的作用提供了框架。版权所有（C）2001 S. Karger AG，巴塞尔。
Conductin is a Wnt signalling protein and serves as a negative regulator of beta -catenin stability. We have previously isolated the human homolog (AXIN2) of the murine conductin gene and shown that it is mutated in colorectal cancer (CRC) with defective mismatch repair (MMR). Here we report the detailed genomic structure of this gene by analysis of cDNA and genomic clones. The gene spans greater than or equal to 25 kb containing ten exons ranging from 96 bp to 904 bp. All splice donor and acceptor sites conform to the GT/AG rule. FISH (Fluorescence in situ Hybridization) analysis localized this gene to human chromosome band 17q24 and showed that it exists as a single copy in the human genome. Northern blot analysis from different human organs demonstrated that the AXIN2 gene is highly expressed in human thymus, prostate. testis, small intestine and ovarian tissues but expressed at a lower level in colon. The data reported here provides a framework for further analysis of this important Writ signalling protein in vertebrate development and tumorigenesis. Copyright (C) 2001 S. Karger AG, Basel.