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Volumn 9, Issue 2, 2004, Pages 151-160

Human catechol O-methyltransferase genetic variation: Gene resequencing and functional characterization of variant allozymes

Author keywords

Catechol O methyltransferase; COMT; Genetic polymorphisms; Methylation; Pharmacogenetics; SNPs

Indexed keywords

ALLOENZYME; BENZOIC ACID DERIVATIVE; CATECHOL METHYLTRANSFERASE; DIHYDROBENZOIC ACID; DNA; METHIONINE; S ADENOSYLMETHIONINE; THREONINE; UNCLASSIFIED DRUG;

EID: 1542314855     PISSN: 13594184     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.mp.4001386     Document Type: Article
Times cited : (145)

References (65)
  • 1
    • 70449228544 scopus 로고
    • Enzymatic O-methylation of epinephrine and other catechols
    • Axelrod J, Tomchick R. Enzymatic O-methylation of epinephrine and other catechols. J Biol Chem 1958; 233: 702-705.
    • (1958) J Biol Chem , vol.233 , pp. 702-705
    • Axelrod, J.1    Tomchick, R.2
  • 2
    • 0016829492 scopus 로고
    • Catechol-O-methyltransferase: Pharmacological aspects and physiological role
    • Guldberg HC, Marsden CA. Catechol-O-methyltransferase: pharmacological aspects and physiological role. Pharmacol Rev 1975; 27: 135-206.
    • (1975) Pharmacol Rev , vol.27 , pp. 135-206
    • Guldberg, H.C.1    Marsden, C.A.2
  • 3
    • 0026436704 scopus 로고
    • Membrane-bound catechol O-methyltransferase: A reevaluation of its role in the O-methylation of the catecholamine neurotransmitter
    • Roth JA. Membrane-bound catechol O-methyltransferase: a reevaluation of its role in the O-methylation of the catecholamine neurotransmitter. Rev Physiol Biochem Pharmacol 1992; 120: 1-29.
    • (1992) Rev Physiol Biochem Pharmacol , vol.120 , pp. 1-29
    • Roth, J.A.1
  • 4
    • 0027964721 scopus 로고
    • Genomic organization of the human catechol-O-methyltransferase gene and its expression from two distinct promoters
    • Tenhunen J, Salminen M, Lundstrom K, Kiviluoto T, Savolainen R, Ulmanen I. Genomic organization of the human catechol-O-methyltransferase gene and its expression from two distinct promoters. Eur J Biochem 1994; 223: 1049-1059.
    • (1994) Eur J Biochem , vol.223 , pp. 1049-1059
    • Tenhunen, J.1    Salminen, M.2    Lundstrom, K.3    Kiviluoto, T.4    Savolainen, R.5    Ulmanen, I.6
  • 5
    • 0017335027 scopus 로고
    • Inheritance of low erythrocyte catechol-O-methyltransferase activity in man
    • Weinshilboum RM, Raymond FA. Inheritance of low erythrocyte catechol-O-methyltransferase activity in man. Am J Hum Genet 1977; 29: 125-135.
    • (1977) Am J Hum Genet , vol.29 , pp. 125-135
    • Weinshilboum, R.M.1    Raymond, F.A.2
  • 7
    • 0019567037 scopus 로고
    • The inheritance of human erythrocyte catechol-O-methyltransferase activity
    • Floderus Y, Wetterberg L. The inheritance of human erythrocyte catechol-O-methyltransferase activity. Clin Genet 1981; 19: 392-395.
    • (1981) Clin Genet , vol.19 , pp. 392-395
    • Floderus, Y.1    Wetterberg, L.2
  • 8
    • 0021738458 scopus 로고
    • Major gene model for the inheritance of catechol-O-methyltransferase activity in five large families
    • Siervogel RM, Weinshilboum R, Wilson AF, Elston RC. Major gene model for the inheritance of catechol-O-methyltransferase activity in five large families. Am J Med Genet 1984; 19: 315-323.
    • (1984) Am J Med Genet , vol.19 , pp. 315-323
    • Siervogel, R.M.1    Weinshilboum, R.2    Wilson, A.F.3    Elston, R.C.4
  • 9
    • 0017798885 scopus 로고
    • Human erythrocyte catechol-O-methyltransferase: Correlation with lung and kidney activity
    • Weinshilboum RM, Human erythrocyte catechol-O-methyltransferase: correlation with lung and kidney activity. Life Sci 1978; 22: 625-630.
    • (1978) Life Sci , vol.22 , pp. 625-630
    • Weinshilboum, R.M.1
  • 11
    • 0018378334 scopus 로고
    • Catechol-O-methyltransferase: Thermolabile enzyme in erythrocytes of subjects homozygous for the allele for low activity
    • Scanlon PD, Raymond FA, Weinshilboum RM. Catechol-O-methyltransferase: thermolabile enzyme in erythrocytes of subjects homozygous for the allele for low activity. Science 1979; 203: 63-65.
    • (1979) Science , vol.203 , pp. 63-65
    • Scanlon, P.D.1    Raymond, F.A.2    Weinshilboum, R.M.3
  • 12
    • 0019775115 scopus 로고
    • Genetics of red cell COMT activity: Analysis of thermal stability and family data
    • Spielman RS, Weinshilboum RM. Genetics of red cell COMT activity: analysis of thermal stability and family data. Am J Med Genet 1981; 10: 279-290.
    • (1981) Am J Med Genet , vol.10 , pp. 279-290
    • Spielman, R.S.1    Weinshilboum, R.M.2
  • 14
    • 0025801604 scopus 로고
    • Cloning and characterization of human placental catechol-O- methyltransferase cDNA
    • Lundström K, Salminen M, Jalanko A, Savolainen R, Ulmanen I. Cloning and characterization of human placental catechol-O-methyltransferase cDNA. DNA Cell Biol 1991; 10: 181-189.
    • (1991) DNA Cell Biol , vol.10 , pp. 181-189
    • Lundström, K.1    Salminen, M.2    Jalanko, A.3    Savolainen, R.4    Ulmanen, I.5
  • 15
    • 0026518652 scopus 로고
    • Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1-q11.2
    • Grossman MH, Emanuel BS, Budaf ML. Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1-q11.2. Genomics 1992; 12: 822-825.
    • (1992) Genomics , vol.12 , pp. 822-825
    • Grossman, M.H.1    Emanuel, B.S.2    Budaf, M.L.3
  • 16
    • 0030004521 scopus 로고    scopus 로고
    • Human catechol O-methyltransferase pharmacogenetics: Description of a functional polymorphism and its potential application to neuropsychiatric disorders
    • Lachman HM, Papolos DF, Saito T, Yu Y-M, Szumlanski CL, Weinshilboum RM. Human catechol O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders. Pharmacogenetics 1996; 6: 243-250.
    • (1996) Pharmacogenetics , vol.6 , pp. 243-250
    • Lachman, H.M.1    Papolos, D.F.2    Saito, T.3    Yu, Y.-M.4    Szumlanski, C.L.5    Weinshilboum, R.M.6
  • 17
    • 0034323569 scopus 로고    scopus 로고
    • Pharmacogenetics of catechol-O-methyltransferase: Frequency of low activity allele in a Ghanaian population
    • Ameyaw M, Syvanen A, Ulmanen I, Ofori-Adjei D, McLeod HL. Pharmacogenetics of catechol-O-methyltransferase: frequency of low activity allele in a Ghanaian population. Hum Mutat 2000; 16: 445-446.
    • (2000) Hum Mutat , vol.16 , pp. 445-446
    • Ameyaw, M.1    Syvanen, A.2    Ulmanen, I.3    Ofori-Adjei, D.4    McLeod, H.L.5
  • 18
    • 0032777995 scopus 로고    scopus 로고
    • Global variation in the frequencies of functionally different catechol O-methyltransferase alleles
    • Palmatier MA, Kang AM, Kidd KK. Global variation in the frequencies of functionally different catechol O-methyltransferase alleles. Biol Psychiatry 1999; 46: 557-567.
    • (1999) Biol Psychiatry , vol.46 , pp. 557-567
    • Palmatier, M.A.1    Kang, A.M.2    Kidd, K.K.3
  • 19
    • 0030889078 scopus 로고    scopus 로고
    • Analysis of a functional catechol-O-methyltransferase gene polymorphism in schizophrenia: Evidence for association with aggressive and antisocial behavior
    • Strous RD, Bark N, Parsia SS, Volavka J, Lachman HM. Analysis of a functional catechol-O-methyltransferase gene polymorphism in schizophrenia: evidence for association with aggressive and antisocial behavior. Psychiatr Res 1997; 69: 71-77.
    • (1997) Psychiatr Res , vol.69 , pp. 71-77
    • Strous, R.D.1    Bark, N.2    Parsia, S.S.3    Volavka, J.4    Lachman, H.M.5
  • 20
    • 0030895285 scopus 로고    scopus 로고
    • Genotype determining low catechol-O-methyltransferase activity as a risk factor for obsessive-compulsive disorder
    • Karayiorgou M, Altemus M, Galke BL, Goldman D, Murphy DL, Ott J et al. Genotype determining low catechol-O-methyltransferase activity as a risk factor for obsessive-compulsive disorder. Proc Natl Acad Sci USA 1997; 94: 4572-4575.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 4572-4575
    • Karayiorgou, M.1    Altemus, M.2    Galke, B.L.3    Goldman, D.4    Murphy, D.L.5    Ott, J.6
  • 21
    • 0031739319 scopus 로고    scopus 로고
    • Preliminary evidence of an association between bipolar disorder in females and the catechol-O-methyltransferase gene
    • Mynett-Johnson LA, Murphy VE, Claffey E, Shields DC, McKeon P. Preliminary evidence of an association between bipolar disorder in females and the catechol-O-methyltransferase gene. Psychiatr Genet 1998; 8: 221-225.
    • (1998) Psychiatr Genet , vol.8 , pp. 221-225
    • Mynett-Johnson, L.A.1    Murphy, V.E.2    Claffey, E.3    Shields, D.C.4    McKeon, P.5
  • 22
    • 0031015324 scopus 로고    scopus 로고
    • High and low activity alleles of catechol O-methyltransferase gene: Ethnic difference and possible association with Parkinson's disease
    • Kunugi H, Nanko S, Ueki A, Otsuka E, Hattori M, Hoda F et al. High and low activity alleles of catechol O-methyltransferase gene: ethnic difference and possible association with Parkinson's disease. Neurosci Lett 1997; 221: 202-204.
    • (1997) Neurosci Lett , vol.221 , pp. 202-204
    • Kunugi, H.1    Nanko, S.2    Ueki, A.3    Otsuka, E.4    Hattori, M.5    Hoda, F.6
  • 23
    • 15144339383 scopus 로고    scopus 로고
    • An association between the allele coding for a low activity variant of catechol O-methyltransferase and the risk for breast cancer
    • Lavigne JA, Helzlsouer KJ, Huang H-Y, Strickland PT, Bell DA, Selmin O et al. An association between the allele coding for a low activity variant of catechol O-methyltransferase and the risk for breast cancer. Cancer Res 1997; 57: 5493-5497.
    • (1997) Cancer Res , vol.57 , pp. 5493-5497
    • Lavigne, J.A.1    Helzlsouer, K.J.2    Huang, H.-Y.3    Strickland, P.T.4    Bell, D.A.5    Selmin, O.6
  • 24
    • 0035688370 scopus 로고    scopus 로고
    • Association studies of bipolar disorder
    • Craddock N, Dave S, Greening J. Association studies of bipolar disorder. Bipolar Disord 2001; 3: 284-298.
    • (2001) Bipolar Disord , vol.3 , pp. 284-298
    • Craddock, N.1    Dave, S.2    Greening, J.3
  • 25
    • 0034606203 scopus 로고    scopus 로고
    • Association between homozygosity at the COMT gene locus and obsessive compulsive disorder
    • Schindler KM, Richter MA, Kennedy JL, Pato MT, Pato CN. Association between homozygosity at the COMT gene locus and obsessive compulsive disorder. Am J Med Genet 2000; 96: 721-724.
    • (2000) Am J Med Genet , vol.96 , pp. 721-724
    • Schindler, K.M.1    Richter, M.A.2    Kennedy, J.L.3    Pato, M.T.4    Pato, C.N.5
  • 26
    • 0033809562 scopus 로고    scopus 로고
    • Meta-analysis of polymorphism of the catechol-O-methyltransferase gene in relation to the etiology of Parkinson's disease in Japan
    • Mizuta I, Mizuta E, Yamasaki S, Kuno S, Yasuda M, Tanaka C. Meta-analysis of polymorphism of the catechol-O-methyltransferase gene in relation to the etiology of Parkinson's disease in Japan. Movement Disord 2000; 15: 1013-1014.
    • (2000) Movement Disord , vol.15 , pp. 1013-1014
    • Mizuta, I.1    Mizuta, E.2    Yamasaki, S.3    Kuno, S.4    Yasuda, M.5    Tanaka, C.6
  • 27
    • 0037449570 scopus 로고    scopus 로고
    • Deconstructing schizophrenia
    • Holden C. Deconstructing schizophrenia. Science 2003; 299: 333-335.
    • (2003) Science , vol.299 , pp. 333-335
    • Holden, C.1
  • 28
    • 0029972674 scopus 로고    scopus 로고
    • Heterozygote and mutation detection by direct automated fluorescent DNA sequencing using a mutant Taq DNA polymerase
    • Chadwick RB, Conrad MP, McGinnis MD, Johnston-Dow L, Spurgeon SL, Kronick MN. Heterozygote and mutation detection by direct automated fluorescent DNA sequencing using a mutant Taq DNA polymerase. BioTechniques 1996; 20: 676-683.
    • (1996) BioTechniques , vol.20 , pp. 676-683
    • Chadwick, R.B.1    Conrad, M.P.2    McGinnis, M.D.3    Johnston-Dow, L.4    Spurgeon, S.L.5    Kronick, M.N.6
  • 29
    • 0030872838 scopus 로고    scopus 로고
    • PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
    • Nickerson DA, Tobe VO, Taylor SL. PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 1997; 25: 2745-2751.
    • (1997) Nucleic Acids Res , vol.25 , pp. 2745-2751
    • Nickerson, D.A.1    Tobe, V.O.2    Taylor, S.L.3
  • 30
    • 0031955116 scopus 로고    scopus 로고
    • Consed: A graphical tool for sequence finishing
    • Gordon D, Abajian C, Green P. Consed: a graphical tool for sequence finishing. Genome Res 1998; 8: 195-202.
    • (1998) Genome Res , vol.8 , pp. 195-202
    • Gordon, D.1    Abajian, C.2    Green, P.3
  • 31
    • 0021760092 scopus 로고
    • A comprehensive set of sequence analysis programs for the VAX
    • Devereux J, Haeberli P, Smithies O. A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res 1984; 12: 387-395.
    • (1984) Nucleic Acids Res , vol.12 , pp. 387-395
    • Devereux, J.1    Haeberli, P.2    Smithies, O.3
  • 32
    • 0024520745 scopus 로고
    • Site-directed mutagenesis by overlap extension using the polymerase chain reaction
    • Ho SN, Hunt HD, Horton RM, Pullen JK, Pease LR. Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 1989; 77: 51-59.
    • (1989) Gene , vol.77 , pp. 51-59
    • Ho, S.N.1    Hunt, H.D.2    Horton, R.M.3    Pullen, J.K.4    Pease, L.R.5
  • 33
    • 0028334382 scopus 로고
    • Human liver thermolabile phenol sulfotransferase: cDNA cloning, expression and characterization
    • Wood TC, Aksoy IA, Aksoy S, Weinshilboum RM. Human liver thermolabile phenol sulfotransferase: cDNA cloning, expression and characterization. Biochem Biophys Res Commun 1994; 198: 1119-1127.
    • (1994) Biochem Biophys Res Commun , vol.198 , pp. 1119-1127
    • Wood, T.C.1    Aksoy, I.A.2    Aksoy, S.3    Weinshilboum, R.M.4
  • 34
    • 0016431055 scopus 로고
    • Microassay of human erythrocyte catechol-O-methyltransferase: Removal of inhibitory calcium ion with chelating resin
    • Raymond FA, Weinshilboum RM. Microassay of human erythrocyte catechol-O-methyltransferase: removal of inhibitory calcium ion with chelating resin. Clin Chim Acta 1975; 58: 185-194.
    • (1975) Clin Chim Acta , vol.58 , pp. 185-194
    • Raymond, F.A.1    Weinshilboum, R.M.2
  • 35
    • 0017184389 scopus 로고
    • A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
    • Bradford MM. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 1976; 72: 248-254.
    • (1976) Anal Biochem , vol.72 , pp. 248-254
    • Bradford, M.M.1
  • 36
    • 0005499841 scopus 로고
    • Statistical estimations in enzyme kinetics
    • Wilkinson GN. Statistical estimations in enzyme kinetics. Biochem J 1961; 80: 324-332.
    • (1961) Biochem J , vol.80 , pp. 324-332
    • Wilkinson, G.N.1
  • 37
    • 0001074460 scopus 로고
    • Computer programmes for processing enzyme kinetic data
    • Cleland WW. Computer programmes for processing enzyme kinetic data. Nature 1963; 198: 463-465.
    • (1963) Nature , vol.198 , pp. 463-465
    • Cleland, W.W.1
  • 40
    • 0028913523 scopus 로고
    • An E-M algorithm and testing strategy for multiple-locus haplotypes
    • Long JC, Williams RC, Urbanek M. An E-M algorithm and testing strategy for multiple-locus haplotypes. Am J Hum Genet 1995; 56: 799-810.
    • (1995) Am J Hum Genet , vol.56 , pp. 799-810
    • Long, J.C.1    Williams, R.C.2    Urbanek, M.3
  • 41
    • 0029130796 scopus 로고
    • Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population
    • Excoffier L, Slatkin M. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 1995; 12: 921-927.
    • (1995) Mol Biol Evol , vol.12 , pp. 921-927
    • Excoffier, L.1    Slatkin, M.2
  • 42
    • 0036155283 scopus 로고    scopus 로고
    • Score tests for association between traits and haplotypes when linkage phase is ambiguous
    • Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 2002; 70: 425-434.
    • (2002) Am J Hum Genet , vol.70 , pp. 425-434
    • Schaid, D.J.1    Rowland, C.M.2    Tines, D.E.3    Jacobson, R.M.4    Poland, G.A.5
  • 44
    • 0028264457 scopus 로고
    • Ethnic differences in erythrocyte catechol O-methyltransferase activity in black and white Americans
    • McLeod HL, Fang L, Luo X, Scott EP, Evans WE. Ethnic differences in erythrocyte catechol O-methyltransferase activity in black and white Americans. J Pharmacol Exp Ther 1994; 270: 26-29.
    • (1994) J Pharmacol Exp Ther , vol.270 , pp. 26-29
    • McLeod, H.L.1    Fang, L.2    Luo, X.3    Scott, E.P.4    Evans, W.E.5
  • 45
    • 0028210328 scopus 로고
    • Crystal structure of catechol O-methyltransferase
    • Vidgren J, Svensson LA, Liljas A. Crystal structure of catechol O-methyltransferase. Nature 1994; 368: 354-358.
    • (1994) Nature , vol.368 , pp. 354-358
    • Vidgren, J.1    Svensson, L.A.2    Liljas, A.3
  • 46
    • 0024398664 scopus 로고
    • Sequence of the D-aspartyl/L-isoaspartyl protein methyltransferase from human erythrocytes: Common sequence motifs for protein, DNA, RNA and small molecule S-adenosylmethionine-dependent methyltransferases
    • Ingrosso D, Fowler AV, Bleibaum J, Clarke S. Sequence of the D-aspartyl/L-isoaspartyl protein methyltransferase from human erythrocytes: common sequence motifs for protein, DNA, RNA and small molecule S-adenosylmethionine-dependent methyltransferases. J Biol Chem 1989; 264: 20131-20139.
    • (1989) J Biol Chem , vol.264 , pp. 20131-20139
    • Ingrosso, D.1    Fowler, A.V.2    Bleibaum, J.3    Clarke, S.4
  • 47
    • 0032991552 scopus 로고    scopus 로고
    • Characterization of single-nucleotide polymorphisms in coding regions of human genes
    • Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Paul N et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat Genet 1999; 22: 231-238.
    • (1999) Nat Genet , vol.22 , pp. 231-238
    • Cargill, M.1    Altshuler, D.2    Ireland, J.3    Sklar, P.4    Ardlie, K.5    Paul, N.6
  • 48
    • 0034843228 scopus 로고    scopus 로고
    • Identification of 197 genetic variations in six human methyltransferase genes in the Japanese population
    • Saito S, Iida A, Sekine A, Miura Y, Sakamoto T, Ogawa C et al. Identification of 197 genetic variations in six human methyltransferase genes in the Japanese population. J Hum Genet 2001; 46: 529-537.
    • (2001) J Hum Genet , vol.46 , pp. 529-537
    • Saito, S.1    Iida, A.2    Sekine, A.3    Miura, Y.4    Sakamoto, T.5    Ogawa, C.6
  • 49
    • 0033060947 scopus 로고    scopus 로고
    • Characterization and implications of estrogenic down-regulation of human catechol O-methyltransferase gene transcription
    • Xie T, Ho SL, Ramsden D. Characterization and implications of estrogenic down-regulation of human catechol O-methyltransferase gene transcription. Mol Pharmacol 1999; 56: 31-38.
    • (1999) Mol Pharmacol , vol.56 , pp. 31-38
    • Xie, T.1    Ho, S.L.2    Ramsden, D.3
  • 51
    • 0032990407 scopus 로고    scopus 로고
    • Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis
    • Halushka MK, Fan J-B, Bentley K, Hsie L, Shen N, Weder A et al. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nat Genet 1999; 22: 239-247.
    • (1999) Nat Genet , vol.22 , pp. 239-247
    • Halushka, M.K.1    Fan, J.-B.2    Bentley, K.3    Hsie, L.4    Shen, N.5    Weder, A.6
  • 53
    • 0033799573 scopus 로고    scopus 로고
    • Apolipoprotein e variation at the sequence haplotype level: Implications for the origin and maintenance of a major human polymorphism
    • Fullerton SM, Clark AG, Weiss KM, Nickerson DA, Taylor SL, Stengard JH et al. Apolipoprotein E variation at the sequence haplotype level: implications for the origin and maintenance of a major human polymorphism. Am J Hum Genet 2000; 67: 881-900.
    • (2000) Am J Hum Genet , vol.67 , pp. 881-900
    • Fullerton, S.M.1    Clark, A.G.2    Weiss, K.M.3    Nickerson, D.A.4    Taylor, S.L.5    Stengard, J.H.6
  • 54
    • 0035217142 scopus 로고    scopus 로고
    • Human sulfotransferase SULT1C1 pharmacogenetics: Gene resequencing and functional genomic studies
    • Freimuth RR, Eckloff B, Wieben ED, Weinshilboum RM. Human sulfotransferase SULT1C1 pharmacogenetics: gene resequencing and functional genomic studies. Pharmacogenetics 2001; 11: 747-756.
    • (2001) Pharmacogenetics , vol.11 , pp. 747-756
    • Freimuth, R.R.1    Eckloff, B.2    Wieben, E.D.3    Weinshilboum, R.M.4
  • 56
    • 0036007464 scopus 로고    scopus 로고
    • Human 3′-phosphoadenosine 5′-phosphosulfate synthetase 2 (PAPSS2) pharmacogenetics: Gene resequencing, genetic polymorphisms and functional characterization of variant allozymes
    • Xu Z-H, Freimuth RR, Eckloff B, Wieben E, Weinshilboum RM. Human 3′-phosphoadenosine 5′-phosphosulfate synthetase 2 (PAPSS2) pharmacogenetics: gene resequencing, genetic polymorphisms and functional characterization of variant allozymes. Pharmacogenetics 2002; 12: 11-21.
    • (2002) Pharmacogenetics , vol.12 , pp. 11-21
    • Xu, Z.-H.1    Freimuth, R.R.2    Eckloff, B.3    Wieben, E.4    Weinshilboum, R.M.5
  • 58
    • 0030048791 scopus 로고    scopus 로고
    • Thiopurine methyltransferase pharmacogenetics: Human gene cloning and characterization of a common polymorphism
    • Szumlanski C, Otterness D, Her C, Lee D, Brandriff B, Kelsell D et al. Thiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphism. DNA Cell Biol 1996; 15: 17-30.
    • (1996) DNA Cell Biol , vol.15 , pp. 17-30
    • Szumlanski, C.1    Otterness, D.2    Her, C.3    Lee, D.4    Brandriff, B.5    Kelsell, D.6
  • 59
    • 0028918413 scopus 로고
    • Kinetics of human soluble and membrane-bound catechol O-methyltransferase: A revised mechanism and description of the thermolabile variant of the enzyme
    • Lotta T, Vidgren J, Tilgmann C, Ulmanen I, Melen K, Julkunen I et al. Kinetics of human soluble and membrane-bound catechol O-methyltransferase: a revised mechanism and description of the thermolabile variant of the enzyme. Biochemistry 1995; 34: 4202-4210.
    • (1995) Biochemistry , vol.34 , pp. 4202-4210
    • Lotta, T.1    Vidgren, J.2    Tilgmann, C.3    Ulmanen, I.4    Melen, K.5    Julkunen, I.6
  • 61
    • 0036797599 scopus 로고    scopus 로고
    • Characterization of human soluble high and low activity catechol-O-methyltransferase catalyzed catechol estrogen methylation
    • Goodman JE, Jensen LT, He P, Yager JD. Characterization of human soluble high and low activity catechol-O-methyltransferase catalyzed catechol estrogen methylation. Pharmacogenetics 2002; 12: 517-528.
    • (2002) Pharmacogenetics , vol.12 , pp. 517-528
    • Goodman, J.E.1    Jensen, L.T.2    He, P.3    Yager, J.D.4
  • 62
    • 0032693405 scopus 로고    scopus 로고
    • Enhanced proteasomal degradation of mutant human thiopurine S-methyltransferase (TPMT) in mammalian cells: Mechanism for TPMT protein deficiency inherited by TPMT*2, TPMT*3A, TPMT*3B or TPMT*3C
    • Tai H-L, Fessing MY, Bonten EJ, Yanishevsky Y, d'Azzo A, Krynetski EY et al. Enhanced proteasomal degradation of mutant human thiopurine S-methyltransferase (TPMT) in mammalian cells: mechanism for TPMT protein deficiency inherited by TPMT*2, TPMT*3A, TPMT*3B or TPMT*3C. Pharmacogenetics 1999; 9: 641-650.
    • (1999) Pharmacogenetics , vol.9 , pp. 641-650
    • Tai, H.-L.1    Fessing, M.Y.2    Bonten, E.J.3    Yanishevsky, Y.4    D'Azzo, A.5    Krynetski, E.Y.6
  • 63
    • 0035135690 scopus 로고    scopus 로고
    • Rapid polyubiquitination and proteosomal degradation of a mutant form of NAD(P)H:quinone oxioreductase 1
    • Siegel D, Anwar A, Winski SL, Kepa JK, Zolman KL, Ross D. Rapid polyubiquitination and proteosomal degradation of a mutant form of NAD(P)H:quinone oxioreductase 1. Mol Pharmacol 2001; 59: 263-268.
    • (2001) Mol Pharmacol , vol.59 , pp. 263-268
    • Siegel, D.1    Anwar, A.2    Winski, S.L.3    Kepa, J.K.4    Zolman, K.L.5    Ross, D.6
  • 64
    • 1542352934 scopus 로고    scopus 로고
    • Thiopurine S-methyltransferase (TPMT) pharmacogenetics: Role of chaperone proteins in variant allozyme degradation
    • Wang L, Sullivan W, Toft D, Weinshilboum R. Thiopurine S-methyltransferase (TPMT) pharmacogenetics: role of chaperone proteins in variant allozyme degradation. Clin Pharmacol Ther 2003; 73: P29.
    • (2003) Clin Pharmacol Ther , vol.73 , pp. 29
    • Wang, L.1    Sullivan, W.2    Toft, D.3    Weinshilboum, R.4
  • 65
    • 0032493441 scopus 로고    scopus 로고
    • Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: A balanced polymorphism for regulation of bilirubin metabolism?
    • Beutler E, Gelbart T, Demina A. Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? Proc Natl Acad Sci USA 1998; 95: 8170-8174.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 8170-8174
    • Beutler, E.1    Gelbart, T.2    Demina, A.3


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