Promoter analysis of the human mismatch repair gene hMSH2
| Autor: | Yasuhito Yuasa, Kazuo Maruyama, Emi Ito, Yuki Iwahashi, Takashi Onodera, Yuka Yanagisawa, Yoshimitsu Akiyama |
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| Rok vydání: | 1998 |
| Předmět: |
Genetic Markers
DNA Repair Transcription Genetic DNA Mutational Analysis Molecular Sequence Data Response element Loss of Heterozygosity Biology Polymerase Chain Reaction Transcription (biology) Proto-Oncogene Proteins Genetics Humans Promoter Regions Genetic Gene Alleles Sequence Deletion Regulation of gene expression Base Sequence Promoter General Medicine Colorectal Neoplasms Hereditary Nonpolyposis Molecular biology Housekeeping gene DNA-Binding Proteins MutS Homolog 2 Protein Gene Expression Regulation Genes CpG site CpG Islands DNA mismatch repair Polymorphism Restriction Fragment Length |
| Zdroj: | Gene. 213:141-147 |
| ISSN: | 0378-1119 |
| DOI: | 10.1016/s0378-1119(98)00187-5 |
| Popis: | The human DNA mismatch repair gene homologue hMSH2 is involved in hereditary nonpolyposis colorectal cancer. We isolated and characterized the 5' upstream region, about 4.4kbp, 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 300bp 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 ( approximately 30%), this polymorphism is suitable for a marker to examine allelic losses. |
| Databáze: | OpenAIRE |
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