Molecular abnormality of an inactive aldehyde dehydrogenase variant commonly found in Orientals.
paper
Cited
Public
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- Authors
- Yoshida, A; Huang, I Y; Ikawa, M
- Year
- 1984
- Journal
- Proceedings of the National Academy of Sciences of the United States of America
- PMID
- 6582480
- DOI
- 10.1073/pnas.81.1.258
- PMCID
- PMC344651
Usual human livers contain two major aldehyde dehydrogenase [(ALDH) aldehyde:NAD+ oxidoreductase] isozymes--i.e., a cytosolic ALDH1 component and a mitochondrial ALDH2 component--whereas approximately equal to 50% of Orientals are "atypical" and have only the ALDH1 isozyme and are missing the ALDH2 isozyme. We previously demonstrated that atypical livers contain an enzymatically inactive but immunologically crossreactive material (CRM) corresponding to the ALDH2 component. The enzymatically active ALDH2 obtained from a usual liver and the CRM obtained from an atypical liver were reduced, S-carboxymethylated, and digested by trypsin. Separation of their digests by high-performance reverse-phase chromatography and by two-dimensional paper chromatography and electrophoresis revealed that ALDH2 contained a peptide sequence of -Glu-Leu-Gly-Glu-Ala-Gly-Leu-Gln-Ala-Asn-Val-Gln-Val-Lys- and that the glutamine adjacent to lysine was substituted by lysine in CRM. All other tryptic peptides, including eight peptides containing S-carboxymethylcysteine, were common in ALDH2 and CRM. It is concluded that a point mutation in the human ALDH2 locus produced the glutamine leads to lysine substitution and enzyme inactivation.
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| Gene-centric characteristics of genome-wide association studies. | Dong C et al. | β | 2007 | β |
| Neurotoxicity and metabolism of the catecholamine-derived 3,4-dihydroxyphenylacetaldehyde and 3,4-dihydroxyphenylglycolaldehyde: the role of aldehyde dehydrogenase. | Marchitti SA et al. | β | 2007 | β |
| Reproductive toxicity of ethylene glycol monoethyl ether in Aldh2 knockout mice. | Wang RS et al. | β | 2007 | β |
| ALDH2 1510 G/A (Glu487Lys) polymorphism interaction with age in head and neck squamous cell carcinoma. | Hashimoto T et al. | β | 2006 | β |
| Association of alcohol-metabolizing genes with alcoholism in a Mexican Indian (Otomi) population. | Montano Loza AJ et al. | β | 2006 | β |
| Characterization of E. coli tetrameric aldehyde dehydrogenases with atypical properties compared to other aldehyde dehydrogenases. | RodrΓguez-Zavala JS et al. | β | 2006 | β |
| Evidence for an important role of alcohol- and aldehyde-metabolizing genes in cancers of the upper aerodigestive tract. | Hashibe M et al. | β | 2006 | β |
| Mitochondrial aldehyde dehydrogenase-2 (ALDH2) Glu504Lys polymorphism contributes to the variation in efficacy of sublingual nitroglycerin. | Li Y et al. | β | 2006 | β |
| Prediction of the deleterious nsSNPs in ABCB transporters. | Li Y et al. | β | 2006 | β |
| Alcohol, ALDH2, and esophageal cancer: a meta-analysis which illustrates the potentials and limitations of a Mendelian randomization approach. | Lewis SJ et al. | β | 2005 | β |
| Aldehyde dehydrogenase 2 activity affects symptoms produced by an intraperitoneal acetaldehyde injection, but not acetaldehyde lethality. | Isse T et al. | β | 2005 | β |
| Association of ALDH2 polymorphism with sensitivity to acetaldehyde-induced micronuclei and facial flushing after alcohol intake. | Kim JS et al. | β | 2005 | β |
| Complex I regulates mutant mitochondrial aldehyde dehydrogenase activity and voluntary ethanol consumption in rats. | Quintanilla ME et al. | β | 2005 | β |
| Folate, vitamin B6, vitamin B12, and vitamin B2 intake, genetic polymorphisms of related enzymes, and risk of colorectal cancer in a hospital-based case-control study in Japan. | Otani T et al. | β | 2005 | β |
| Molecular cloning, baculovirus expression, and tissue distribution of the zebrafish aldehyde dehydrogenase 2. | Lassen N et al. | β | 2005 | β |
| Paired acute inhalation test reveals that acetaldehyde toxicity is higher in aldehyde dehydrogenase 2 knockout mice than in wild-type mice. | Isse T et al. | β | 2005 | β |
| PDBSite: a database of the 3D structure of protein functional sites. | Ivanisenko VA et al. | β | 2005 | β |
| Pharmacogenetics and human molecular genetics of opiate and cocaine addictions and their treatments. | Kreek MJ et al. | β | 2005 | β |
| Polymorphisms in the mitochondrial aldehyde dehydrogenase gene (Aldh2) determine peak blood acetaldehyde levels and voluntary ethanol consumption in rats. | Quintanilla ME et al. | β | 2005 | β |
| Risk of multiple squamous cell carcinomas both in the esophagus and the head and neck region. | Muto M et al. | β | 2005 | β |
| Aptamer-dependent full-length cDNA synthesis by overlap extension PCR. | Mitani Y et al. | β | 2004 | β |
| Developing products for personalized medicine: NIH Research Tools Policy applications. | Gupta R et al. | β | 2004 | β |
| Genes associated with addiction: alcoholism, opiate, and cocaine addiction. | Kreek MJ et al. | β | 2004 | β |
| Genetic polymorphism in ethanol metabolism: acetaldehyde contribution to alcohol abuse and alcoholism. | Quertemont E | β | 2004 | β |
| Overview of the role of alcohol dehydrogenase and aldehyde dehydrogenase and their variants in the genesis of alcohol-related pathology. | Crabb DW et al. | β | 2004 | β |
| Role of human aldehyde dehydrogenases in endobiotic and xenobiotic metabolism. | Vasiliou V et al. | β | 2004 | β |
| topoSNP: a topographic database of non-synonymous single nucleotide polymorphisms with and without known disease association. | Stitziel NO et al. | β | 2004 | β |
| Acetaldehyde-reinforcing effects: differences in low-alcohol-drinking (UChA) and high-alcohol-drinking (UChB) rats. | Quintanilla ME et al. | β | 2003 | β |
| Deficiency in a mitochondrial aldehyde dehydrogenase increases vulnerability to oxidative stress in PC12 cells. | Ohsawa I et al. | β | 2003 | β |
| Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip. | Matsubara Y et al. | β | 2003 | β |
| Genetic deficiency of a mitochondrial aldehyde dehydrogenase increases serum lipid peroxides in community-dwelling females. | Ohsawa I et al. | β | 2003 | β |
| Human aldehyde dehydrogenases: potential pathological, pharmacological, and toxicological impact. | SlΓ‘dek NE | β | 2003 | β |
| On the mammalian acetone metabolism: from chemistry to clinical implications. | Kalapos MP | β | 2003 | β |
| Structural location of disease-associated single-nucleotide polymorphisms. | Stitziel NO et al. | β | 2003 | β |
| Aldehyde dehydrogenase 2 (ALDH2) genotype affects rectal cancer susceptibility due to alcohol consumption. | Matsuo K et al. | β | 2002 | β |
| Aldehyde dehydrogenase 2 gene is a risk factor for myocardial infarction in Japanese men. | Takagi S et al. | β | 2002 | β |
| Diminished alcohol preference in transgenic mice lacking aldehyde dehydrogenase activity. | Isse T et al. | β | 2002 | β |
| Effects of aldehyde dehydrogenase-2 genetic polymorphisms on metabolism of structurally different aldehydes in human liver. | Wang RS et al. | β | 2002 | β |
| Population distribution of aldehyde dehydrogenase-2 genetic polymorphism: implications for risk assessment. | Ginsberg G et al. | β | 2002 | β |
| Beyond the catalytic core of ALDH: a web of important residues begins to emerge. | Hempel J et al. | β | 2001 | β |
| Genetic polymorphisms in drug-metabolizing enzymes and drug targets. | Hiratsuka M et al. | β | 2001 | β |
| Subunit communication in tetrameric class 2 human liver aldehyde dehydrogenase as the basis for half-of-the-site reactivity and the dominance of the oriental subunit in a heterotetramer. | Weiner H et al. | β | 2001 | β |
| The aldehyde dehydrogenase 2 gene is a risk factor for hypertension in Japanese but does not alter the sensitivity to pressor effects of alcohol: the Suita study. | Takagi S et al. | β | 2001 | β |
| Deficiency in mitochondrial aldehyde dehydrogenase increases the risk for late-onset Alzheimer's disease in the Japanese population. | Kamino K et al. | β | 2000 | β |
| A structural explanation for the retinal specificity of class 1 ALDH enzymes. | Moore SA et al. | β | 1999 | β |
| Effects of worldwide population subdivision on ALDH2 linkage disequilibrium. | Peterson RJ et al. | β | 1999 | β |
| Joint multipoint linkage analysis of multivariate qualitative and quantitative traits. II. Alcoholism and event-related potentials. | Williams JT et al. | β | 1999 | β |
| The role of alcohol dehydrogenase 2 and aldehyde dehydrogenase 2 genotypes in alcohol-induced vasospastic angina. | Seki T et al. | β | 1999 | β |
| Ethanol metabolism, toxicity and genetic polymorphism. | Iwahashi K et al. | β | 1998 | β |
| Sheep liver cytosolic aldehyde dehydrogenase: the structure reveals the basis for the retinal specificity of class 1 aldehyde dehydrogenases. | Moore SA et al. | β | 1998 | β |
| Studies on the enzymology of aldehyde dehydrogenase-2 in genetically modified HeLa cells. | Crabb D et al. | β | 1998 | β |
| Molecular characterization of genes of Pseudomonas sp. strain HR199 involved in bioconversion of vanillin to protocatechuate. | Priefert H et al. | β | 1997 | β |
| Polymorphism of alcohol-metabolizing genes affects drinking behavior and alcoholic liver disease in Japanese men. | Tanaka F et al. | β | 1997 | β |
| Structure of mitochondrial aldehyde dehydrogenase: the genetic component of ethanol aversion. | Steinmetz CG et al. | β | 1997 | β |
| Effects of genetic polymorphisms in alcohol-metabolizing enzymes on alcohol hypersensitivity and alcohol-related health problems in orientals. | Takeshita T et al. | β | 1996 | β |
| Ethanol and acetaldehyde metabolism: past, present, and future. | Kitson KE | β | 1996 | β |
| Heterotetramers of human liver mitochondrial (class 2) aldehyde dehydrogenase expressed in Escherichia coli. A model to study the heterotetramers expected to be found in Oriental people. | Wang X et al. | β | 1996 | β |
| SjΓΆgren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. | De Laurenzi V et al. | β | 1996 | β |
| The mutation in the mitochondrial aldehyde dehydrogenase (ALDH2) gene responsible for alcohol-induced flushing increases turnover of the enzyme tetramers in a dominant fashion. | Xiao Q et al. | β | 1996 | β |
| Alcohol and aldehyde dehydrogenase genotypes and drinking behavior of Chinese living in Shanghai. | Muramatsu T et al. | β | 1995 | β |
| Alcohol consumption by orientals in North America is predicted largely by a single gene. | Tu GC et al. | β | 1995 | β |
| Alcohol-metabolizing enzyme polymorphisms and alcoholism in Japan. | Maezawa Y et al. | β | 1995 | β |
| aldB, an RpoS-dependent gene in Escherichia coli encoding an aldehyde dehydrogenase that is repressed by Fis and activated by Crp. | Xu J et al. | β | 1995 | β |
| Aldehyde Dehydrogenase Deficiency as Cause of Facial Flushing Reaction to Alcohol in Japanese. | Goldman D | β | 1995 | β |
| Inhibition of gene expression by triple helix formation in hepatoma cells. | Tu GC et al. | β | 1995 | β |
| Molecular biological aspects of alcohol-induced liver disease. | Arnon R et al. | β | 1995 | β |
| The aldehyde dehydrogenase ALDH2*2 allele exhibits dominance over ALDH2*1 in transduced HeLa cells. | Xiao Q et al. | β | 1995 | β |
| Analysis of the genotypes for aldehyde dehydrogenase 2 in Japanese patients with primary gout. | Yamanaka H et al. | β | 1994 | β |
| Characterization of the three genotypes of low Km aldehyde dehydrogenase in a Japanese population. | Takeshita T et al. | β | 1994 | β |
| Effects of changing glutamate 487 to lysine in rat and human liver mitochondrial aldehyde dehydrogenase. A model to study human (Oriental type) class 2 aldehyde dehydrogenase. | FarrΓ©s J et al. | β | 1994 | β |
| Genetic differences in drug disposition. | May DG | β | 1994 | β |
| The D2 dopamine receptor gene and alcoholism: a genetic effect in the liability for alcoholism. | Cook CC et al. | β | 1994 | β |
| ADH and ALDH genotype profiles in Caucasians with alcohol-related problems and controls. | Gilder FJ et al. | β | 1993 | β |
| Alcohol and aldehyde dehydrogenase polymorphisms and alcoholism. | Thomasson HR et al. | β | 1993 | β |
| Alcohol and aldehyde dehydrogenases in human esophagus: comparison with the stomach enzyme activities. | Yin SJ et al. | β | 1993 | β |
| Daidzin: a potent, selective inhibitor of human mitochondrial aldehyde dehydrogenase. | Keung WM et al. | β | 1993 | β |
| Human aldehyde dehydrogenase. cDNA cloning and primary structure of the enzyme that catalyzes dehydrogenation of 4-aminobutyraldehyde. | Kurys G et al. | β | 1993 | β |
| Human high-Km aldehyde dehydrogenase (ALDH3): molecular, kinetic and structural features. | Yin SJ et al. | β | 1993 | β |
| Why there is no gene for alcoholism. | Devor EJ | β | 1993 | β |
| Genetic polymorphism and activities of human lung alcohol and aldehyde dehydrogenases: implications for ethanol metabolism and cytotoxicity. | Yin SJ et al. | β | 1992 | β |
| Identification and molecular characterization of the gene coding for acetaldehyde dehydrogenase II (acoD) of Alcaligenes eutrophus. | Priefert H et al. | β | 1992 | β |
| Acetaldehyde metabolism in different aldehyde dehydrogenase-2 genotypes. | Enomoto N et al. | β | 1991 | β |
| Alcohol and aldehyde dehydrogenase genotypes and alcoholism in Chinese men. | Thomasson HR et al. | β | 1991 | β |
| Alcohol, liver, and nutrition. | Lieber CS | β | 1991 | β |
| Aldehyde dehydrogenases: what can be learned from a baker's dozen sequences? | Lindahl R et al. | β | 1991 | β |
| A polymorphism in the rat liver mitochondrial ALDH2 gene is associated with alcohol drinking behavior. | Carr L et al. | β | 1991 | β |
| Cloning and characterization of a new functional human aldehyde dehydrogenase gene. | Hsu LC et al. | β | 1991 | β |
| Genetics of human alcohol-metabolizing enzymes. | Yoshida A et al. | β | 1991 | β |
| Genotyping of the aldehyde dehydrogenase 2 (ALDH2) gene using the polymerase chain reaction: evidence for single point mutation in the ALDH2 gene of ALDH2-deficiency. | Enomoto N et al. | β | 1991 | β |
| Hepatic, metabolic and toxic effects of ethanol: 1991 update. | Lieber CS | β | 1991 | β |
| Human and mouse hepatic aldehyde dehydrogenases important in the biotransformation of cyclophosphamide and the retinoids. | Sladek NE et al. | β | 1991 | β |
| Isolation and characterization of cDNA clones for rat liver 10-formyltetrahydrofolate dehydrogenase. | Cook RJ et al. | β | 1991 | β |
| Molecular cloning of the mitochondrial aldehyde dehydrogenase gene of Saccharomyces cerevisiae by genetic complementation. | Saigal D et al. | β | 1991 | β |
| Polymorphism of the rat liver mitochondrial aldehyde dehydrogenase cDNA. | Carr LG et al. | β | 1991 | β |
| Thiol proteases and aldehyde dehydrogenases: evolution from a common thiolesterase precursor? | Hempel J et al. | β | 1991 | β |
| Biological markers for increased risk of alcoholism and for quantitation of alcohol consumption. | Crabb DW | β | 1990 | β |
| [Genetically-induced variability of alcohol metabolism and its effect on drinking behavior and predisposition to alcoholism]. | Eckey R et al. | β | 1990 | β |
| Genotyping of mitochondrial aldehyde dehydrogenase locus of Native American Indians. | O'Dowd BF et al. | β | 1990 | β |
| Use of leukocyte aldehyde dehydrogenase activity to monitor inhibitory effect of disulfiram treatment. | Helander A et al. | β | 1990 | β |
| Genotypes for aldehyde dehydrogenase deficiency and alcohol sensitivity. The inactive ALDH2(2) allele is dominant. | Crabb DW et al. | β | 1989 | β |
| Primary structures of rat and bovine liver mitochondrial aldehyde dehydrogenases deduced from cDNA sequences. | FarrΓ©s J et al. | β | 1989 | β |
| Biochemical and molecular basis of alcohol-induced injury to liver and other tissues. | Lieber CS | β | 1988 | β |
| Frequency of the atypical aldehyde dehydrogenase-2 gene (ALDH2(2)) in Japanese and Caucasians. | Shibuya A et al. | β | 1988 | β |
| Genetics and biological markers of risk for alcoholism. | Tabakoff B et al. | β | 1988 | β |
| Genotypes of alcohol-metabolizing enzymes in Japanese with alcohol liver diseases: a strong association of the usual Caucasian-type aldehyde dehydrogenase gene (ALDH1(2)) with the disease. | Shibuya A et al. | β | 1988 | β |
| Human stomach alcohol and aldehyde dehydrogenases (ALDH): a genetic model proposed for ALDH III isozymes. | Yin SJ et al. | β | 1988 | β |
| Mitochondrial aldehyde dehydrogenase from horse liver. Correlations of the same species variants for both the cytosolic and the mitochondrial forms of an enzyme. | Johansson J et al. | β | 1988 | β |
| Mitochondrial aldehyde dehydrogenase. Homology of putative targeting sequence to that of carbamyl phosphate synthetase I revealed by correlation of cDNA and protein data. | Hempel J et al. | β | 1987 | β |
| Genetic polymorphism of human liver alcohol and aldehyde dehydrogenases, and their relationship to alcohol metabolism and alcoholism. | Bosron WF et al. | β | 1986 | β |
| Identification and selective precipitation of human aldehyde dehydrogenase isozymes using antibodies raised to horse liver aldehyde dehydrogenase isozymes. | McMichael M et al. | β | 1986 | β |
| Three human alcohol dehydrogenase subunits: cDNA structure and molecular and evolutionary divergence. | Ikuta T et al. | β | 1986 | β |
| Application of a high performance liquid chromatography method for screening of aldehyde dehydrogenase isozyme deficiency in hair roots from different ethnic groups. | Tottmar O et al. | β | 1985 | β |
| Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2. | Hsu LC et al. | β | 1985 | β |
| Enzymatic activity of atypical Oriental types of aldehyde dehydrogenases. | Yoshida A et al. | β | 1985 | β |
| Mitochondrial aldehyde dehydrogenase from human liver. Primary structure, differences in relation to the cytosolic enzyme, and functional correlations. | Hempel J et al. | β | 1985 | β |
| Molecular cloning of a full-length cDNA for human alcohol dehydrogenase. | Ikuta T et al. | β | 1985 | β |
| Determination of aldehyde dehydrogenase phenotypes using hair roots: re-examination. | Yoshida A | β | 1984 | β |
| Human liver mitochondrial aldehyde dehydrogenase: a C-terminal segment positions and defines the structure corresponding to the one reported to differ in the Oriental enzyme variant. | Hempel J et al. | β | 1984 | β |