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Literature DB >> 12721789

Catalog of 680 variations among eight cytochrome p450 ( CYP) genes, nine esterase genes, and two other genes in the Japanese population.

Susumu Saito¹, Aritoshi Iida¹, Akihiro Sekine¹, Saori Kawauchi¹, Shoko Higuchi¹, Chie Ogawa², Yusuke Nakamura^3,4.

Abstract

We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in eight cytochrome p450 ( CYP) genes, nine esterase genes, and two other genes by directly sequencing the relevant genomic regions in their entirety except for repetitive elements. This approach identified 607 SNPs and 73 insertion/deletion polymorphisms among the 19 genes examined. Of the 607 SNPs, 284 were identified in CYP genes, 302 in esterase genes, and 21 in the other two genes ( GGT1, and TGM1); overall, 37 SNPs were located in 5' flanking regions, 496 in introns, 55 in exons, and 19 in 3' flanking regions. These variants should contribute to studies designed to investigate possible correlations between genotypes and phenotypes of disease susceptibility or responsiveness to drug therapy.

Entities: Gene

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Year: 2003 PMID： 12721789 DOI： 10.1007/s10038-003-0021-7

Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172

76 in total

1. Catalog of 320 single nucleotide polymorphisms (SNPs) in 20 quinone oxidoreductase and sulfotransferase genes.

Authors: A Iida; A Sekine; S Saito; Y Kitamura; T Kitamoto; S Osawa; C Mishima; Y Nakamura
Journal: J Hum Genet Date: 2001 Impact factor: 3.172

2. An in vivo pilot study characterizing the new CYP2A67, 8, and *10 alleles.

Authors: C Xu; Y S Rao; B Xu; E Hoffmann; J Jones; E M Sellers; R F Tyndale
Journal: Biochem Biophys Res Commun Date: 2002-01-11 Impact factor: 3.575

3. Identification of a novel dioxin-inducible cytochrome P450.

Authors: Steven P Rivera; Sirkku T Saarikoski; Oliver Hankinson
Journal: Mol Pharmacol Date: 2002-02 Impact factor: 4.436

4. Substrate specificity of deubiquitinating enzymes: ubiquitin C-terminal hydrolases.

Authors: C N Larsen; B A Krantz; K D Wilkinson
Journal: Biochemistry Date: 1998-03-10 Impact factor: 3.162

5. Crystal structure of a deubiquitinating enzyme (human UCH-L3) at 1.8 A resolution.

Authors: S C Johnston; C N Larsen; W J Cook; K D Wilkinson; C P Hill
Journal: EMBO J Date: 1997-07-01 Impact factor: 11.598

6. Assays for transglutaminases in cell death.

Authors: G Melino; E Candi; P M Steinert
Journal: Methods Enzymol Date: 2000 Impact factor: 1.600

7. Human cytochrome P450 CYP2A13: predominant expression in the respiratory tract and its high efficiency metabolic activation of a tobacco-specific carcinogen, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone.

Authors: T Su; Z Bao; Q Y Zhang; T J Smith; J Y Hong; X Ding
Journal: Cancer Res Date: 2000-09-15 Impact factor: 12.701

8. Genetic polymorphisms of the human CYP2A13 gene: identification of single-nucleotide polymorphisms and functional characterization of an Arg257Cys variant.

Authors: Xiuling Zhang; Ting Su; Qing-Yu Zhang; Jun Gu; Michele Caggana; Hongming Li; Xinxin Ding
Journal: J Pharmacol Exp Ther Date: 2002-08 Impact factor: 4.030

9. Immunoaffinity purification and characterization of thromboxane synthase from porcine lung.

Authors: R F Shen; H H Tai
Journal: J Biol Chem Date: 1986-09-05 Impact factor: 5.157

10. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.

Authors: L J Russell; J J DiGiovanna; G R Rogers; P M Steinert; N Hashem; J G Compton; S J Bale
Journal: Nat Genet Date: 1995-03 Impact factor: 38.330

8 in total

1. Identification of 20 novel SNPs in the guanine nucleotide binding protein alpha 12 gene locus.

Authors: Aritoshi Iida; Susumu Saito; Akihiro Sekine; Wataru Tabei; Yukie Kataoka; Yusuke Nakamura
Journal: J Hum Genet Date: 2004-06-18 Impact factor: 3.172

2. Inference from the relationships between linkage disequilibrium and allele frequency distributions of 240 candidate SNPs in 109 drug-related genes in four Asian populations.

Authors: Pei-Chieng Cha; Ryo Yamada; Akihiro Sekine; Yusuke Nakamura; Chong-Lek Koh
Journal: J Hum Genet Date: 2004-09-11 Impact factor: 3.172

Catalog of 680 variations among eight cytochrome p450 ( CYP) genes, nine esterase genes, and two other genes in the Japanese population.

1. Catalog of 320 single nucleotide polymorphisms (SNPs) in 20 quinone oxidoreductase and sulfotransferase genes.

2. An in vivo pilot study characterizing the new CYP2A67, 8, and *10 alleles.

3. Identification of a novel dioxin-inducible cytochrome P450.

4. Substrate specificity of deubiquitinating enzymes: ubiquitin C-terminal hydrolases.

5. Crystal structure of a deubiquitinating enzyme (human UCH-L3) at 1.8 A resolution.

6. Assays for transglutaminases in cell death.

7. Human cytochrome P450 CYP2A13: predominant expression in the respiratory tract and its high efficiency metabolic activation of a tobacco-specific carcinogen, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone.

8. Genetic polymorphisms of the human CYP2A13 gene: identification of single-nucleotide polymorphisms and functional characterization of an Arg257Cys variant.

9. Immunoaffinity purification and characterization of thromboxane synthase from porcine lung.

10. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.

1. Identification of 20 novel SNPs in the guanine nucleotide binding protein alpha 12 gene locus.

2. Inference from the relationships between linkage disequilibrium and allele frequency distributions of 240 candidate SNPs in 109 drug-related genes in four Asian populations.

3. Catalog of 300 SNPs in 23 genes encoding G-protein coupled receptors.

4. Identification of 156 novel SNPs in 29 genes encoding G-protein coupled receptors.

Review 5. Pharmacogenomics and therapeutic prospects in dementia.

6. Functional analysis of human thromboxane synthase polymorphic variants.

Review 7. Pharmacogenetic basis for therapeutic optimization in Alzheimer's disease.

Review 8. Carboxylesterases in lipid metabolism: from mouse to human.