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

Masato Furuichi, Michihiro C. Yoshida, Hisanobu Oda, Tatsurou Tajiri, Yusaku Nakabeppu, Teruhisa Tsuzuki, Mutsuo Sekiguchi

Research output: Contribution to journalArticle

117 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)485-490
Number of pages6
JournalGenomics
Volume24
Issue number3
DOIs
Publication statusPublished - Dec 1994

All Science Journal Classification (ASJC) codes

  • Genetics

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