2003
DOI: 10.1080/0049825021000061615
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Non-synonymous single nucleotide alterations in the microsomal epoxide hydrolase gene and their functional effects

Abstract: 1. By sequencing genomic DNA from 72 established cell lines derived from Japanese individuals, we detected 25 single nucleotide alterations in the microsomal epoxide hydrolase (EPHX1) gene. Of them, five were exonic alterations resulting in amino acid alterations (77C>G, T26S; 128G>C, R43T; 337T>C, Y113H; 416A>G, H139R; 823A>G, T275A). The T26S, R43T, Y113H and H139R substitutions were found at relatively high frequencies and seemed to be polymorphic, and T26S and T275A were novel. 2. To examine the effects of… Show more

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Cited by 23 publications
(17 citation statements)
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“…These data were confirmed using independent methods by other laboratories [10,11]. More recently, other EPHX1 single nucleotide polymorphisms (SNPs) were identified [12,13]. However, most of these latter SNPs represent polymorphisms either within non-coding regions of the transcriptional unit, or are synonomous and therefore do not alter the protein structure of EPHX1.…”
Section: Introductionsupporting
confidence: 60%
“…These data were confirmed using independent methods by other laboratories [10,11]. More recently, other EPHX1 single nucleotide polymorphisms (SNPs) were identified [12,13]. However, most of these latter SNPs represent polymorphisms either within non-coding regions of the transcriptional unit, or are synonomous and therefore do not alter the protein structure of EPHX1.…”
Section: Introductionsupporting
confidence: 60%
“…The functional role of EPHX1 and its polymorphisms has not been as well studied as some other genes, but the polymorphisms appear to be functional [12,13]. Biologically, a high enzyme activity might both be pro-carcinogenic or anticarcinogenic, depending on the specific carcinogen [42].…”
Section: Discussionmentioning
confidence: 99%
“…EPHX1 is an enzyme involved in the detoxification of harmful epoxides from smoking, chemicals and drugs, which is strongly expressed in bronchial epithelium [12]. Enzyme activity varies widely in the population and two common coding polymorphisms confer fast and slow enzyme activity, Tyr113His and His139Arg, respectively [12,13].…”
mentioning
confidence: 99%
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“…The mEH enzyme activity was determined by measuring the formation rate of dihydrobenzoin produced from hydrolysis of cis-stilbene oxide by the method of Maekawa et al [20]. HPLC analysis was performed using a Tosoh 8000 system (Tosoh, Tokyo, Japan).…”
Section: Analysis Of Enzyme Activity Of Mehmentioning
confidence: 99%