Genomic structure of the human Smad3 gene and its infrequent alterations in colorectal cancers
Genomic structure of the human Smad3 gene and its infrequent alterations in colorectal cancers
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DOI：
10.1016/s0304-3835(97)00384-4
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发表时间：
1998-01-09
期刊：
影响因子：
9.7
通讯作者：
Yuasa, Y
中科院分区：
文献类型：
--
作者：
Arai, T;Akiyama, Y;Yuasa, Y
Smad 3基因是果蝇Mad的脊椎动物同源物Smad家族的成员，其基因产物是TGF-β信号通路中的细胞质元件。Smad 2和Smad 4/DPC 4是Smad家族的其他成员，可能是肿瘤抑制基因，因为这些基因的改变发生在各种癌症中。我们确定了人Smad 3的基因组结构，它由9个外显子组成。然后，我们检查了散发性和遗传性非息肉病性结直肠癌中是否存在Smad 3基因突变，并在50例癌症中发现整个编码区没有突变。在17例提供信息的病例中，有2例（11.8%）观察到Smad 3的杂合性缺失，这些发现表明Smad 3基因可能在结直肠癌的肿瘤发生中不起重要作用。(C)1998爱思唯尔科学爱尔兰有限公司
The Smad3 gene is a member of the Smad family, vertebrate homologues of Drosophila Mad, and its gene product is a cytoplasmic element in the TGF-beta signaling pathway. Smad2 and Smad4/DPC4, other members of the Smad family, are possibly tumor suppressor genes because alterations of these genes occurred in various carcinomas. We determined the genomic structure of human Smad3 which consists of nine exons. Then we examined whether or not Smad3 gene mutations exist in sporadic and hereditary non-polyposis colorectal cancers and found no mutations in the entire coding region in 50 cancers. Loss of heterozygosity of Smad3 was observed in two of the 17 (11.8%) informative cases using a polymorphism found in intron 2., These findings suggest that the Smad3 gene may not play an important role in the tumorigenesis of colorectal cancers. (C) 1998 Elsevier Science Ireland Ltd.