Genomic structure and chromosome location of the human mutT homologue gene MTH1 encoding 8-oxo-dGTPase for prevention of A:T to C:G transversion

Genomics. 1994 Dec;24(3):485-90. doi: 10.1006/geno.1994.1657.

Abstract

8-Oxo-dGTP (8-oxo-7,8-dihydrodeoxyguanosine triphosphate) is produced by active oxygen species in the nucleotide pool of the cell and can be incorporated into cellular DNA. Human cells contain enzyme activity that hydrolyzes 8-oxo-dGTP to 8-oxo-dGMP, thereby preventing occurrence of mutations, caused by misincorporation. When the cDNA for human 8-oxo-dGTPase was expressed in Escherichia coli mutT- mutant cells devoid of self 8-oxo-dGTPase activity, the elevated level of spontaneous A:T to C:G mutation frequency reverted to normal. We isolated the genomic sequence encoding the enzyme and named the gene MTH1 (for mutT human homologue). This gene is composed of at least 4 exons, spans approximately 9 kb, and is located on human chromosome 7p22.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Bacterial Proteins / genetics*
  • Bacterial Proteins / metabolism
  • Base Sequence
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7
  • Cloning, Molecular
  • Conserved Sequence
  • DNA Primers / genetics
  • DNA Repair Enzymes*
  • DNA Replication / genetics
  • DNA, Complementary / genetics
  • Escherichia coli / enzymology
  • Escherichia coli / genetics
  • Escherichia coli Proteins*
  • Humans
  • Lac Operon
  • Molecular Sequence Data
  • Phosphoric Monoester Hydrolases / genetics*
  • Phosphoric Monoester Hydrolases / metabolism
  • Point Mutation
  • Pyrophosphatases
  • Sequence Homology, Amino Acid

Substances

  • Bacterial Proteins
  • DNA Primers
  • DNA, Complementary
  • Escherichia coli Proteins
  • Phosphoric Monoester Hydrolases
  • Pyrophosphatases
  • mutT protein, E coli
  • 8-oxodGTPase
  • DNA Repair Enzymes

Associated data

  • GENBANK/D38591
  • GENBANK/D38592
  • GENBANK/D38593
  • GENBANK/D38594