Human N-acetyltransferase 1 *10 and *11 alleles increase protein expression through distinct mechanisms and associate with sulfamethoxazole-induced hypersensitivity
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Sim, 2008, Arylamine N-acetyltransferases: structural and functional implications of polymorphisms., Toxicology, 254, 170, 10.1016/j.tox.2008.08.022
Minchin, 2007, Arylamine N-acetyltransferase I., Int J Biochem Cell Biol, 39, 1999, 10.1016/j.biocel.2006.12.006
Butcher, 2005, Genomic organization of human arylamine N-acetyltransferase Type I reveals alternative promoters that generate different 5-UTR splice variants with altered translational activities., Biochem J, 387, 119, 10.1042/BJ20040903
Barker, 2006, Functional properties of an alternative, tissue-specific promoter for human arylamine N-acetyltransferase 1., Pharmacogenet Genomics, 16, 515, 10.1097/01.fpc.0000215066.29342.26
Husain, 2007, Functional analysis of the human N-acetyltransferase 1 major promoter: quantitation of tissue expression and identification of critical sequence elements., Drug Metab Dispos, 35, 1649, 10.1124/dmd.107.016485
Husain, 2004, Identification of the major promoter and non-coding exons of the human arylamine N-acetyltransferase 1 gene (NAT1)., Pharmacogenetics, 14, 397, 10.1097/01.fpc.0000114755.08559.6e
Boukouvala, 2005, Structural analysis of the genes for human arylamine N-acetyltransferases and characterisation of alternative transcripts., Basic Clin Pharmacol Toxicol, 96, 343, 10.1111/j.1742-7843.2005.pto_02.x
Huang, 2002, Polymorphism of the N-acetyltransferase 2 gene as a susceptibility risk factor for antituberculosis drug-induced hepatitis., Hepatology, 35, 883, 10.1053/jhep.2002.32102
Wolkenstein, 1995, A slow acetylator genotype is a risk factor for sulphonamide-induced toxic epidermal necrolysis and Stevens-Johnson syndrome., Pharmacogenetics, 5, 255, 10.1097/00008571-199508000-00011
Rieder, 1991, Prominence of slow acetylator phenotype among patients with sulfonamide hypersensitivity reactions., Clin Pharmacol Ther, 49, 13, 10.1038/clpt.1991.3
Zielinska, 1998, Genotyping of the arylamine N-acetyltransferase polymorphism in the prediction of idiosyncratic reactions to trimethoprim-sulfamethoxazole in infants., Pharm World Sci, 20, 123, 10.1023/A:1008664707825
Lilla, 2006, Effect of NAT1 and NAT2 genetic polymorphisms on colorectal cancer risk associated with exposure to tobacco smoke and meat consumption., Cancer Epidemiol Biomarkers Prev, 15, 99, 10.1158/1055-9965.EPI-05-0618
Evans, 1999, Pharmacogenomics: translating functional genomics into rational therapeutics., Science, 286, 487, 10.1126/science.286.5439.487
Bell, 1995, Polymorphism in the N-acetyltransferase 1 (NAT1) polyadenylation signal: association of NAT1. 10 allele with higher N-acetylation activity in bladder and colon tissue., Cancer Res, 55, 5226
Badawi, 1995, Role of aromatic amine acetyltransferases, NAT1 and NAT2, in carcinogen-DNA adduct formation in the human urinary bladder., Cancer Res, 55, 5230
Lammer, 2004, Periconceptional multivitamin intake during early pregnancy, genetic variation of acetyl-N-transferase 1 (NAT1), and risk for orofacial clefts., Birth Defects Res A Clin Mol Teratol, 70, 846, 10.1002/bdra.20081
Lammer, 2004, Maternal smoking and the risk of orofacial clefts: susceptibility with NAT1 and NAT2 polymorphisms., Epidemiology, 15, 150, 10.1097/01.ede.0000112214.33432.cc
Jiao, 2007, Haplotype of N-acetyltransferase 1 and 2 and risk of pancreatic cancer., Cancer Epidemiol Biomarkers Prev, 16, 2379, 10.1158/1055-9965.EPI-06-0992
Li, 2006, Polymorphisms of cytochrome P4501A2 and N-acetyltransferase genes, smoking, and risk of pancreatic cancer., Carcinogenesis, 27, 103, 10.1093/carcin/bgi171
Dai, 2009, Effects of genetic polymorphisms of N-Acetyltransferase on trichloroethylene-induced hypersensitivity dermatitis among exposed workers., Ind Health, 47, 479, 10.2486/indhealth.47.479
Bruhn, 1999, Correlation between genotype and phenotype of the human arylamine N-acetyltransferase type 1 (NAT1)., Biochem Pharmacol, 58, 1759, 10.1016/S0006-2952(99)00269-5
de Leon, 2000, Characterization of naturally occurring and recombinant human N-acetyltransferase variants encoded by NAT1., Mol Pharmacol, 58, 288, 10.1124/mol.58.2.288
Doll, 1997, Identification of a novel allele at the human NAT1 acetyltransferase locus., Biochem Biophys Res Commun, 233, 584, 10.1006/bbrc.1997.6501
Zhu, 2008, Functional effects of single nucleotide polymorphisms in the coding region of human N-acetyltransferase 1., Pharmacogenomics J, 8, 339, 10.1038/sj.tpj.6500483
Wang, 2008, Regulatory polymorphism in vitamin K epoxide reductase complex subunit 1 (VKORC1) affects gene expression and warfarin dose requirement., Blood, 112, 1013, 10.1182/blood-2008-03-144899
Johnson, 2009, Promoter polymorphisms in ACE (angiotensin I-converting enzyme) associated with clinical outcomes in hypertension., Clin Pharmacol Ther, 85, 36, 10.1038/clpt.2008.194
Zhang, 2007, Polymorphisms in human dopamine D2 receptor gene affect gene expression, splicing, and neuronal activity during working memory., Proc Natl Acad Sci U S A, 104, 20552, 10.1073/pnas.0707106104
Schneider, 1995, Efficacy and toxicity of two doses of trimethoprim-sulfamethoxazole as primary prophylaxis against Pneumocystis carinii pneumonia in patients with human immunodeficiency virus., Dutch AIDS Treatment Group J Infect Dis, 171, 1632
Ju, 2002, Mechanism of idiosyncratic drug reactions: reactive metabolite formation, protein binding and the regulation of the immune system., Curr Drug Metab, 3, 367, 10.2174/1389200023337333
Winter, 2005, Identification of cytochrome P450 and arylamine N-acetyltransferase isoforms involved in sulfadiazine metabolism., Drug Metab Dispos, 33, 969, 10.1124/dmd.104.002998
Nakamura, 1995, In vitro formation, disposition and toxicity of N-acetoxy-sulfamethoxazole, a potential mediator of sulfamethoxazole toxicity., J Pharmacol Exp Ther, 274, 1099
Reilly, 2000, A role for bioactivation and covalent binding within epidermal keratinocytes in sulfonamide-induced cutaneous drug reactions., J Invest Dermatol, 114, 1164, 10.1046/j.1523-1747.2000.00985.x
Zielinska, 1998, The arylamine N-acetyltransferase (NAT2) polymorphism and the risk of adverse reactions to co-trimoxazole in children., Eur J Clin Pharmacol, 54, 779, 10.1007/s002280050551
Eliaszewicz, 2002, Prospective evaluation of risk factors of cutaneous drug reactions to sulfonamides in patients with AIDS., J Am Acad Dermatol, 47, 40, 10.1067/mjd.2002.120468
Alfirevic, 2003, Slow acetylator phenotype and genotype in HIV-positive patients with sulphamethoxazole hypersensitivity., Br J Clin Pharmacol, 55, 158, 10.1046/j.1365-2125.2003.01754.x
Pirmohamed, 2000, Association analysis of drug metabolizing enzyme gene polymorphisms in HIV-positive patients with co-trimoxazole hypersensitivity., Pharmacogenetics, 10, 705, 10.1097/00008571-200011000-00005
Carr, 1994, Acetylation phenotype and cutaneous hypersensitivity to trimethoprim-sulphamethoxazole in HIV-infected patients., Aids, 8, 333, 10.1097/00002030-199403000-00006
ONeil, 2002, Acetylator phenotype and genotype in HIV-infected patients with and without sulfonamide hypersensitivity., J Clin Pharmacol, 42, 613, 10.1177/00970002042006004
Quirino, 1999, Acetylator phenotype prevalence in HIV-infected patients without previous trimethoprim-sulfamethoxazole hypersensitivity., Biomed Pharmacother, 53, 286, 10.1016/S0753-3322(99)80101-2
Miller, 1988, A simple salting out procedure for extracting DNA from human nucleated cells., Nucleic Acids Res, 16, 1215, 10.1093/nar/16.3.1215
Para, 2000, Reduced toxicity with gradual initiation of trimethoprim-sulfamethoxazole as primary prophylaxis for Pneumocystis carinii pneumonia: AIDS Clinical Trials Group 268., J Acquir Immune Defic Syndr, 24, 337, 10.1097/00126334-200008010-00007
Pinsonneault, 2004, Genetic variants of the human Hdipeptide transporter PEPT2: analysis of haplotype functions., J Pharmacol Exp Ther, 311, 1088, 10.1124/jpet.104.073098
Wang, 2005, Multidrug resistance polypeptide 1 (MDR1, ABCB1) variant 3435CT affects mRNA stability., Pharmacogenet Genomics, 15, 693, 10.1097/01.fpc.0000178311.02878.83
Liu, 2008, Human arylamine N-acetyltransferase 1: in vitro and intracellular inactivation by nitrosoarene metabolites of toxic and carcinogenic arylamines., Chem Res Toxicol, 21, 2005, 10.1021/tx800215h
Cheng, 2006, Prediction of mRNA polyadenylation sites by support vector machine., Bioinformatics, 22, 2320, 10.1093/bioinformatics/btl394
Hu, 2005, Bioinformatic identification of candidate cis-regulatory elements involved in human mRNA polyadenylation., RNA, 11, 1485, 10.1261/rna.2107305
Zhang, 2005, Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G., J Biol Chem, 280, 32618, 10.1074/jbc.M504942200
Jacobson, 1996, Interrelationships of the pathways of mRNA decay and translation in eukaryotic cells., Annu Rev Biochem, 65, 693, 10.1146/annurev.bi.65.070196.003401
Wickens, 1997, Life and death in the cytoplasm: messages from the 3 end., Curr Opin Genet Dev, 7, 220, 10.1016/S0959-437X(97)80132-3
Edmonds, 2002, A history of poly A sequences: from formation to factors to function., Prog Nucleic Acid Res Mol Biol, 71, 285, 10.1016/S0079-6603(02)71046-5