Human N-acetyltransferase 1 *10 and *11 alleles increase protein expression through distinct mechanisms and associate with sulfamethoxazole-induced hypersensitivity

Pharmacogenetics and Genomics - Tập 21 Số 10 - Trang 652-664 - 2011
Daqing Wang1,2,3,4, Michael F. Para1, Susan L. Koletar1, Wolfgang Sadée1
1Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's website (www.pharmacogeneticsandgenomics.com).
2e-mail: [email protected]
3fax: +1 614 292 7232
4to Dr Danxin Wang, PhD, Department of Pharmacology, Program in Pharmacogenomics, School of Biomedical Science, College of Medicine, Ohio State University, Columbus, OH 43210, USA Tel: +1 614 292 7336

Tóm tắt

Từ khóa


Tài liệu tham khảo

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

Butcher, 2008, Regulation of arylamine N-acetyltransferases., Curr Drug Metab, 9, 498, 10.2174/138920008784892128