Promoter analysis of the human mismatch repair gene hMSH2

被引：38

作者：

Iwahashi, Y

Ito, E

Yanagisawa, Y

Akiyama, Y

Yuasa, Y

Onodera, T

Maruyama, K ^{[1
]}

机构：

[1] Univ Tokyo, Dept Anim Resource Sci, Grad Sch Agr & Life Sci, Tokyo 1138519, Japan

[2] Tokyo Med & Dent Univ, Dept Hyg & Oncol, Sch Med, Tokyo 1138519, Japan

来源：

GENE | 1998年 / 213卷 / 1-2期

关键词：

HNPCC; CpG island; Alu sequences; housekeeping genes;

D O I：

10.1016/S0378-1119(98)00187-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The human DNA mismatch repair gene homologue hMSH2 is involved in hereditary nonpolyposis colorectal cancer. We isolated and characterized the 5' upstream region, about 4.4 kbp, of the hMSH2 gene. This region contains CpG islands and a number of elements involved in constitutive expression, but there is no TATA-box nearby the transcription start points. This is the typical structure for many promoters of housekeeping genes. Alu sequences and mononucleotide repeats are clustered in this region and there are two transcription start points. Deletion analysis revealed that less than 300 bp was sufficient to initiate transcription. Although no mutation that influences promoter activity of this region was found, a polymorphism was detected by PCR-RFLP analysis. Because informative cases (C/T heterozygous) were relatively high (similar to 30%), this polymorphism is suitable for a marker to examine allelic losses. (C) 1998 Elsevier Science B.V. All rights reserved.

引用

页码：141 / 147

页数：7

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