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
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Sequence
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Bacterial Proteins / genetics*
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Bacterial Proteins / metabolism
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Base Sequence
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Chromosome Mapping
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Chromosomes, Human, Pair 7
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Cloning, Molecular
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Conserved Sequence
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DNA Primers / genetics
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DNA Repair Enzymes*
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DNA Replication / genetics
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DNA, Complementary / genetics
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Escherichia coli / enzymology
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Escherichia coli / genetics
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Escherichia coli Proteins*
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Humans
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Lac Operon
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Molecular Sequence Data
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Phosphoric Monoester Hydrolases / genetics*
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Phosphoric Monoester Hydrolases / metabolism
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Point Mutation
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Pyrophosphatases
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Sequence Homology, Amino Acid
Substances
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Bacterial Proteins
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DNA Primers
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DNA, Complementary
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Escherichia coli Proteins
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Phosphoric Monoester Hydrolases
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Pyrophosphatases
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mutT protein, E coli
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8-oxodGTPase
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DNA Repair Enzymes
Associated data
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GENBANK/D38591
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GENBANK/D38592
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GENBANK/D38593
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GENBANK/D38594