Sequence analysis of NAT2 gene in Brazilians: Identification of undescribed single nucleotide polymorphisms and molecular modeling of the N-acetyltransferase 2 protein structure

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 683, Issue 1-2, 2010, Pages 43-49

  Teixeira, Raquel L F ^a   Silva Jr , Floriano P ^a   Silveira, Aline R ^a   Cabello, Pedro H ^a   Mendonça Lima, Leila ^a   Rabahi, Marcelo F ^b   Kritski, Afrânio L ^c   Mello, Fernanda C Q ^c   Suffys, Philip N ^a   de Miranda, Antonio B ^a   Santos, Adalberto R ^a  

^a INSTITUTO OSWALDO CRUZ   (Brazil)

^b Anuar Auad Infectious Disease Reference Hospital   (Brazil)

^c FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

Author keywords

Brazilian population; Human NAT2; Molecular modeling; N Acetylation; Polymorphism; Structure function

Indexed keywords

ARYLAMINE ACETYLTRANSFERASE; CYSTEINE; DNA; GLYCINE; LEUCINE; METHIONINE; PROLINE; THREONINE; TYROSINE; VALINE;

ARTICLE; BRAZIL; CONTROLLED STUDY; DNA DETERMINATION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC MARKER; HAPLOTYPE; HUMAN; MOLECULAR CLONING; MOLECULAR MODEL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

ACETYLATION; ARYLAMINE N-ACETYLTRANSFERASE; BRAZIL; CASE-CONTROL STUDIES; HAPLOTYPES; HUMANS; MODELS, MOLECULAR; MOLECULAR STRUCTURE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS; TUBERCULOSIS, PULMONARY;

EID: 71549167862     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2009.10.009     Document Type: Article

References (54)

1. Hein D.W., Doll M.A., Fletland A.J., Leff M.A., Webb S.J., Xiao G.H., Devanaboyina U.S., Nangju N.A., and Feng Y. Molecular genetics and epidemiology of the NAT1 and NAT2 acetylation polymorphisms. Cancer Epidemiol. Biomarkers Prev. 9 (2000) 29-42
2. Reidenberg M.M. The pharmacogenetics of antiarrythmic drugs. Ann. N. Y. Acad. Sci. 432 (1984) 69-74
3. Sabbagh N., Delaporte E., Marez D., Lo-Guidice J.M., Piette F., and Broly F. NAT2 genotyping and efficacy of sulfasalazine in patients with chronic discoid lupus erythematous. Pharmacogenetics 7 (1997) 131-135
4. Trimbrell J.A., Harland S.J., and Facchini V. Polymorphic acetylation of hydralazine. Clin. Pharmacol. Ther. 28 (1980) 350-355
5. Hein D.W. Molecular genetics and function of NAT1 and NAT2: role in aromatic amine metabolism and carcinogenesis. Mutat. Res. 506-507 (2002) 65-77
6. Ohno M., Yamaguchi I., Yamamoto I., Fukuda T., Yolota S., Maekura R., Ito M., Yamamoto Y., Ogura T., Maeda K., Komuta K., Igarashi T., and Azuma J. Slow N-acetyltransferase 2 genotype affects the incidence of isoniazid and rifampicin-induced hepatotoxicity. Int. J. Tuberc. Lung Dis. 4 (2000) 256-261
7. Kita T., Tanigawara Y., Chikazawa S., Hatanaka H., Sakaeda T., Komada F., Iwakawa S., and Okumura K. N-acetyltransferase 2 genotype correlated with isoniazid acetylation in Japanese tuberculous patients. Biol. Pharm. Bull. 24 (2001) 544-549
8. Huang Y.S., Chern H.D., Su W.J., Wu J.C., Lai S.L., Yang S.Y., Chang F.Y., and Lee S.D. Polymorphism of the N-acetyltransferase 2 gene as a susceptibility risk factor antituberculosis drug-induced hepatitis. Hepatology 35 (2002) 883-889
9. Huang Y.S. Genetic polymorphisms of drug-metabolizing enzymes and the susceptibility to antituberculosis drug-induced liver injury. Expert. Opin. Drug Metab. Toxicol. 3 (2007) 1-8
10. Roy P.D., Majumder M., and Roy B. Pharmacogenomics of antiTB drugs-related hepatotoxicity. Pharmacogenomics 9 (2008) 311-321
11. Deitz A.C., Zheng W., Leff M.A., Gross M., Wen W.Q., Doll M.A., Xiao G.H., Folsom A.R., and Hein D.W. N-Acetyltransferase-2 genetic polymorphism, well-done meat intake, and breast cancer risk among postmenopausal women. Cancer Epidemiol. Biomarkers Prev. 9 (2000) 905-910
12. Chen K., Jiang Q.T., and He H.Q. Relationship between metabolic enzyme polymorphism and colorectal cancer. World J. Gastroenterol. 11 (2005) 331-335
13. Hein D.W. N-Acetyltransferase 2 genetic polymorphism: effects of carcinogen and haplotype on urinary bladder cancer risk. Oncogene 25 (2006) 1649-1658
14. Fretland A.J., Leff M.A., Doll M.A., and Hein D.W. Functional characterization of human N-acetyltransferase 2 (NAT2) single nucleotide polymorphisms. Pharmacogenetics 11 (2001) 207-215
15. Zang Y., Doll M.A., Zhao S., States J.C., and Hein D.W. Functional characterization of single-nucleotide polymorphisms and haplotypes of human N-acetyltransferase 2. Carcinogenesis 28 (2007) 1665-1671
16. Delomenie C., Sica L., Grant D.M., Krishnamoorthy R., and Dupret J.M. Genotyping of the polymorphic N-acetyltransferase (NAT2*) gene locus in two native African populations. Pharmacogenetics 6 (1996) 177-185
17. Agúndez J.A., Golka K., Martínez C., Selinski S., Blaszkewicz M., and García-Martín E. Unraveling ambiguous NAT2 genotyping data. Clin. Chem. 54 (2008) 1390-1394
18. Cavaco I., Reis R., Gil J.P., and Ribeiro V. CYP3A4*1B and NAT2*14 alleles in a native African population. Clin. Chem. Lab. Med. 41 (2003) 606-609
19. Sekine A., Saito S., Iida A., Mitsunobu Y., Higuchi S., Harigae S., and Nakamura Y. Identification of single-nucleotide polymorphisms (SNPs) of human N-acetyltransferase genes NAT1, NAT2, AANAT, ARD1 and L1CAM in the Japanese population. J. Hum. Genet. 46 (2001) 314-319
20. Xie H.G., Xu Z.H., Ou-Yang D.S., Shu Y., Yang D.L., Wang J.S., Yan X.D., Huang S.L., Wang W., and Zhou H.H. Meta-analysis of phenotype and genotype of NAT2 deficiency in Chinese populations. Pharmacogenetics 7 (1997) 503-514
21. Jorge-Nebert L.F., Eichelbaum M., Griese E.U., Inaba T., and Arias T.D. Analysis of six SNPs of NAT2 in Ngawbe and Embera Amerindians of Panama and determination of the Embera acetylation phenotype using caffeine. Pharmacogenetics 12 (2002) 39-48
22. Teixeira R.L.F., Miranda A.B., Pacheco A.G.F., Lopes M.Q.P., Fonseca-Costa J., Rabahi M., Melo H.M., Kritski A.L., Mello F.C.Q., Suffys P.N., and Santos A.R. Genetic profile of the arylamine N-Acetyltransferase 2 coding gene among individuals from two different regions of Brazil. Mutat. Res. 624 (2007) 31-40
23. Possuelo L.G., Castelan J.A., de Brito T.C., Ribeiro A.W., Cafrune P.I., Picon P.D., Santos A.R., Teixeira R.L., Gregianini T.S., Hutz M.H., Rossetti M.L., and Zaha A. Association of slow N-acetyltransferase 2 profile and anti-TB drugs induced hepatotoxicity in patients from Southern Brazil. Eur. J. Clin. Pharmacol. 64 (2008) 673-681
24. 68 in the catalytic mechanism of polymorphic human NAT2. J. Biol. Chem. 267 (1992) 7381-7385
25. Sinclair J.C., Sandy J., Delgoda R., Sim E., and Noble M.E. Structure of arylamine N-acetyltransferase reveals a catalytic triad. Nat. Struct. Biol. 7 (2000) 560-564
26. Rodrigues-Lima F., and Dupret J.M. 3D model of human arylamine N-acetyltransferase 2: structure basis of the slow acetylator phenotype of the R64Q variant and analysis of the active-site loop. Biochem. Biophys. Res. Commun. 291 (2002) 116-123
27. Sandy J., Mushtaq A., Kawamura A., Sinclair J., Sim E., and Noble M. The structure of arylamine N-acetyltransferase from Mycobacterium smegmatis-an enzyme which inactivates the anti-tubercular drug, isoniazid. J. Mol. Biol. 318 (2002) 1071-1083
28. Holton S.J., Dairou J., Sandy J., Rodrigues-Lima F., Dupret J.M., Noble M.E., and Sim E. Structure of Mesorhizobium loti arylamine N-acetyltransferase 1. Acta Crystallogr. Sect. F. Struct. Biol. Cryst. Commun. 61 (2005) 14-16
29. Westwood I.M., Holton S.J., Rodrigues-Lima F., Dupret J.M., Bhakta S., Noble M.E., and Sim E. Expression, purification, characterization and structure of Pseudomonas aeruginosa arylamine N-acetyltransferase. Biochem. J. 385 (2005) 605-612
30. Westwood I.M., Kawamura A., Fullam E., Russell A.J., Davies S.G., and Sim E. Structure and mechanism of arylamine N-acetyltransferases. Curr. Top. Med. Chem. 6 (2006) 1641-1654
31. Walraven J.M., Trent J.O., and Hein D.W. Computational and experimental analyses of mammalian arylamine N-acetyltransferase. Structure and function. Drug Metab. Dispos. 35 (2007) 1001-1007
32. Wu H., Dombrovsky L., Tempel W., Martin F., Loppnau P., Goodfellow G.H., Grant D.M., and Plotnikov A.N. Structural basis of substrate-binding specificity of human arylamine N-acetyltransferases. J. Biol. Chem. 282 (2007) 30189-30197
33. Bairoch A., Boeckmann B., Ferro S., and Gasteiger E. Swiss-Prot: Juggling between evolution and stability. Brief Bioinform. 5 (2004) 39-55
34. Notredame C., Higgins D.G., and Heringa J. T-Coffee: a novel method for fast and accurate multiple sequence alignment. J. Mol. Biol. 302 (2000) 205-217
35. Berman H.M., Westbrook J., Feng Z., Gilliland G., Bhat T.N., Weissig H., Shindyalov I.N., and Bourne P.E. The protein data bank. Nucleic Acids Res. 28 (2000) 235-242
36. Guex N., and Peitsch M.C. Swiss-PdbViewer: a fast and easy-to-use PDB viewer for Macintosh and PC. Protein Data Bank Quaterly Newslett. 77 (1996)
37. Sobolev V., Sorokine A., Prilusky J., Abola E.E., and Edelman M. Automated analysis of interatomic contacts in proteins. Bioinformatics 15 (1999) 327-332
38. Patin E., Barreiro L.B., Sabeti P.C., Austerlitz F., Luca F., Sajantila A., Behar D.M., Semino O., Sakuntabhai A., Guiso N., Gicquel B., McElreavey K., Harding R.M., Heyer E., and Quintana-Murci L. Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. Am. J. Hum. Genet. 78 (2006) 423-436
39. Patin E., Harmant C., Kidd K.K., Kidd J., Froment A., Mehdi S.Q., Sica L., Heyer E., and Quintana-Murci L. Sub-Saharan African coding sequence variation and haplotype diversity at the NAT2 gene. Hum. Mutat. 27 (2006) 720-730
40. Zang Y., Zhao S., Doll M.A., Christopher States J., and Hein D.W. Functional characterization of the A411T (L137F) and G364A (D122N) genetic polymorphisms in human N-acetyltransferase 2. Pharmacogenet. Genomics 17 (2007) 37-45
41. Ohtomi M., Sasaki M., and Deguchi T. Two arylamine N-acetyltransferases from chicken pineal gland as identified by cDNA cloning. Eur. J. Biochem. 185 (1989) 253-261
42. Butcher N.J., Arulpragasam A., and Minchin R.F. Proteasomal degradation of N-acetyltransferase 1 is prevented by acetylation of the active site cysteine: a mechanism for the slow acetylator phenotype and substrate-dependent down-regulation. J. Biol. Chem. 279 (2004) 22131-22137
43. Wang H., Guo Z., Vath G.M., Wagner C.R., and Hanna P.E. Chemical modification of hamster arylamine N-acetyltransferase 2 with isozyme-selective and nonselective N-arylbromoacetamido reagents. Protein J. 23 (2004) 153-166
44. Walraven J.M., Zang Y., Trent J.O., and Hein D.W. Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2. Curr. Drug Metab. 9 (2008) 471-486
45. Luca F., Bubba G., Basile M., Brdicka R., Michalodimitrakis E., Rickards O., Vershubsky G., Quintana-Murci L., Kozlov A.I., and Novelletto A. Mutiple advantageous amino acid variants in the NAT2 gene in human populations. PloS One 3 (2008) e3136
46. Fuselli S., Gilman R.H., Chanock S.J., Bonatto S.L., De Stefano G., Evans C.A., Labuda D., Luiselli D., Salzano F.M., Soto G., Vallejo G., Sajantila A., Pettener D., and Tarazona-Santos E. Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversity. Pharmacogenomics J. 7 (2007) 144-152
47. Leff M.A., Fretland A.J., Doll M.A., and Hein D.W. Novel human N-acetyltransferase 2 alleles that differ in mechanism for slow acetylator phenotype. J. Biol. Chem. 274 (1999) 34519-34522
48. Hein D.W., Fretland A.J., and Doll M.A. Effects of single nucleotide polymorphisms in human N-acetyltransferase 2 on metabolic activation (O-acetylation) of heterocyclic amine carcinogens. Int. J. Cancer 119 (2006) 1208-1211
49. Shishikura K., Hohjoh H., and Tokunaga K. Novel allele containing a 190C>T nonsynonymous substitution in the N-acetyltransferase (NAT2) gene. Hum. Mutat. 15 (2000) 581-584
50. Sabbagh A., Langaney A., Darlu P., Gérard N., Krishnamoorthy R., and Poloni E.S. Worldwide distribution of NAT2 diversity: Implications for NAT2 evolutionary history. BMC Genet. 9 (2008) 21-34
51. García-Martin E. Interethnic and intraethnic variability of NAT2 single nucleotide polymorphisms. Curr. Drug Metab. 9 (2008) 487-497
52. Woolhouse N.M., Qureshi M.M., and Bayoumi R.A. A new mutation C759T in the polymorphic N-acetyltransferase (NAT2) gene. Pharmacogenetics 7 (1997) 83-84
53. Anitha A., and Banerjee M. Arylamine N-acetyltransferase 2 polymorphism in the ethnic populations of South India. Int. J. Mol. Med. 11 (2003) 125-131
54. Boukouvala S., and Sim E. Structural analysis of the genes for human arylamine N-acetyltransferases and characterization of alternative transcripts. Basic Clin. Pharmacol. Toxicol. 96 (2005) 343-351