Promoter analysis of the human mismatch repair gene hMSH2

Gene. 1998 Jun 15;213(1-2):141-7. doi: 10.1016/s0378-1119(98)00187-5.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • CpG Islands
  • DNA Mutational Analysis
  • DNA Repair / genetics*
  • DNA-Binding Proteins*
  • Gene Expression Regulation
  • Genes*
  • Genetic Markers
  • Humans
  • Loss of Heterozygosity
  • Molecular Sequence Data
  • MutS Homolog 2 Protein
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Promoter Regions, Genetic*
  • Proto-Oncogene Proteins / genetics*
  • Sequence Deletion
  • Transcription, Genetic


  • DNA-Binding Proteins
  • Genetic Markers
  • Proto-Oncogene Proteins
  • MSH2 protein, human
  • MutS Homolog 2 Protein

Associated data

  • GENBANK/AB006445