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

研究成果: ジャーナルへの寄稿学術誌査読

125 被引用数 (Scopus)

抄録

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.

本文言語英語
ページ(範囲)485-490
ページ数6
ジャーナルGenomics
24
3
DOI
出版ステータス出版済み - 12月 1994

!!!All Science Journal Classification (ASJC) codes

  • 遺伝学

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