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Volumn 20, Issue 11, 2010, Pages 647-664

CYP1A2 is more variable than previously thought: A genomic biography of the gene behind the human drug-metabolizing enzyme

Author keywords

CYP1A2; cytochrome P450 1A2; drug metabolism; Ethiopia; microsatellite; pharmacogenetics; purifying selection; SNPstr; time to most recent common ancestor

Indexed keywords

CYTOCHROME P450 1A2; MICROSATELLITE DNA;

EID: 78049294655     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e32833e90eb     Document Type: Article
Times cited : (26)

References (62)
  • 1
    • 52949093871 scopus 로고    scopus 로고
    • African genetic diversity: Implications for human demographic history, modern human origins, and complex disease mapping
    • Campbell MC, Tishkoff SA. African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu Rev Genomics Hum Genet 2008; 9:403-433.
    • (2008) Annu Rev Genomics Hum Genet , vol.9 , pp. 403-433
    • Campbell, M.C.1    Tishkoff, S.A.2
  • 2
    • 39749181521 scopus 로고    scopus 로고
    • Worldwide human relationships inferred from genome-wide patterns of variation
    • Li JZ, Absher DM, Tang H, Southwick AM, Casto AM, Ramachandran S, et al. Worldwide human relationships inferred from genome-wide patterns of variation. Science 2008; 319:1100-1104.
    • (2008) Science , vol.319 , pp. 1100-1104
    • Li, J.Z.1    Absher, D.M.2    Tang, H.3    Southwick, A.M.4    Casto, A.M.5    Ramachandran, S.6
  • 3
    • 14744280512 scopus 로고    scopus 로고
    • Geography predicts neutral genetic diversity of human populations
    • Prugnolle F, Manica A, Balloux F. Geography predicts neutral genetic diversity of human populations. Curr Biol 2005; 15:R159-R160.
    • (2005) Curr Biol , vol.15
    • Prugnolle, F.1    Manica, A.2    Balloux, F.3
  • 4
    • 27644509150 scopus 로고    scopus 로고
    • Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa
    • Ramachandran S, Deshpande O, Roseman CC, Rosenberg NA, Feldman MW, Cavalli-Sforza LL. Support from the relationship of genetic and geographic distance in human populations for a serial founder effect originating in Africa. Proc Natl Acad Sci \USA 2005; 102:15942-15947.
    • (2005) Proc Natl Acad Sci \USA , vol.102 , pp. 15942-15947
    • Ramachandran, S.1    Deshpande, O.2    Roseman, C.C.3    Rosenberg, N.A.4    Feldman, M.W.5    Cavalli-Sforza, L.L.6
  • 5
    • 18744366079 scopus 로고    scopus 로고
    • Evolutioni Did early humans go north or south?
    • Forster P, Matsumura S. Evolution. Did early humans go north or south? Science 2005; 308:965-966.
    • (2005) Science , vol.308 , pp. 965-966
    • Forster, P.1    Matsumura, S.2
  • 6
    • 33750964482 scopus 로고    scopus 로고
    • African human diversity, origins and migrations
    • Reed FA, Tishkoff SA. African human diversity, origins and migrations. Curr Opin Genet Dev 2006; 16:597-605.
    • (2006) Curr Opin Genet Dev , vol.16 , pp. 597-605
    • Reed, F.A.1    Tishkoff, S.A.2
  • 8
    • 0042856457 scopus 로고    scopus 로고
    • Genetic polymorphism of CYP1A2 in Ethiopians affecting induction and expression: Characterization of novel haplotypes with single-nucleotide polymorphisms in intron 1
    • Aklillu E, Carrillo JA, Makonnen E, Hellman K, Pitarque M, Bertilsson L, et al. Genetic polymorphism of CYP1A2 in Ethiopians affecting induction and expression: characterization of novel haplotypes with single-nucleotide polymorphisms in intron 1. Mol Pharmacol 2003; 64:659-669.
    • (2003) Mol Pharmacol , vol.64 , pp. 659-669
    • Aklillu, E.1    Carrillo, J.A.2    Makonnen, E.3    Hellman, K.4    Pitarque, M.5    Bertilsson, L.6
  • 10
    • 0141483123 scopus 로고    scopus 로고
    • Identification of human cytochrome P(450)s that metabolise anti-parasitic drugs and predictions of in vivo drug hepatic clearance from in vitro data
    • Li XQ, Bjorkman A, Andersson TB, Gustafsson LL, Masimirembwa CM. Identification of human cytochrome P(450)s that metabolise anti-parasitic drugs and predictions of in vivo drug hepatic clearance from in vitro data. Eur J Clin Pharmacol 2003; 59:429-442.
    • (2003) Eur J Clin Pharmacol , vol.59 , pp. 429-442
    • Li, X.Q.1    Bjorkman, A.2    Andersson, T.B.3    Gustafsson, L.L.4    Masimirembwa, C.M.5
  • 11
    • 0038718245 scopus 로고    scopus 로고
    • Federal Ministry of Health Addis Ababa: Ethiopia; Federal Democratic Republic of Ethiopia, Ministry of Health
    • Federal Ministry of Health. Malaria: Diagnosis and treatment guidelines for health workers in Ethiopia. Addis Ababa: Ethiopia; Federal Democratic Republic of Ethiopia, Ministry of Health 2004.
    • (2004) Malaria: Diagnosis and Treatment Guidelines for Health Workers in Ethiopia
  • 13
    • 78049296621 scopus 로고    scopus 로고
    • Accessed 2009
    • NCBI36: http://www.ncbi.nlm.nih.gov/. [Accessed 2009].
    • NCBI , vol.36
  • 14
    • 0028237729 scopus 로고
    • Interindividual variations in human liver cytochrome P-450 enzymes involved in the oxidation of drugs, carcinogens and toxic chemicals: Studies with liver microsomes of 30 Japanese and 30 Caucasians
    • Shimada T, Yamazaki H, Mimura M, Inui Y, Guengerich FP. Interindividual variations in human liver cytochrome P-450 enzymes involved in the oxidation of drugs, carcinogens and toxic chemicals: studies with liver microsomes of 30 Japanese and 30 Caucasians. J Pharmacol Exp Ther 1994; 270:414-423.
    • (1994) J Pharmacol Exp Ther , vol.270 , pp. 414-423
    • Shimada, T.1    Yamazaki, H.2    Mimura, M.3    Inui, Y.4    Guengerich, F.P.5
  • 15
    • 13444252325 scopus 로고    scopus 로고
    • Toward the evaluation of function in genetic variability: Characterizing human SNP frequencies and establishing BAC-transgenic mice carrying the human CYP1A1-CYP1A2 locus
    • Jiang Z, Dalton TP, Jin L, Wang B, Tsuneoka Y, Shertzer HG, et al. Toward the evaluation of function in genetic variability: characterizing human SNP frequencies and establishing BAC-transgenic mice carrying the human CYP1A1-CYP1A2 locus. Hum Mutat 2005; 25:196-206.
    • (2005) Hum Mutat , vol.25 , pp. 196-206
    • Jiang, Z.1    Dalton, T.P.2    Jin, L.3    Wang, B.4    Tsuneoka, Y.5    Shertzer, H.G.6
  • 16
    • 0024445437 scopus 로고
    • Human CYP1A2 sequence, gene structure, comparison with the mouse and rat orthologous gene, and differences in liver 1A2 mRNA expression
    • Ikeya K, Jaiswal AK, Owens RA, Jones JE, Nebert DW, Kimura S. Human CYP1A2: sequence, gene structure, comparison with the mouse and rat orthologous gene, and differences in liver 1A2 mRNA expression. Mol Endocrinol 1989; 3:1399-1408.
    • (1989) Mol Endocrinol , vol.3 , pp. 1399-1408
    • Ikeya, K.1    Jaiswal, A.K.2    Owens, R.A.3    Jones, J.E.4    Nebert, D.W.5    Kimura, S.6
  • 17
    • 34347235844 scopus 로고    scopus 로고
    • Adaptations for the oxidation of polycyclic aromatic hydrocarbons exhibited by the structure of human P450 1A2
    • Sansen S, Yano JK, Reynald RL, Schoch GA, Griffin KJ, Stout CD, et al. Adaptations for the oxidation of polycyclic aromatic hydrocarbons exhibited by the structure of human P450 1A2. J Biol Chem 2007; 282:14348-14355.
    • (2007) J Biol Chem , vol.282 , pp. 14348-14355
    • Sansen, S.1    Yano, J.K.2    Reynald, R.L.3    Schoch, G.A.4    Griffin, K.J.5    Stout, C.D.6
  • 19
    • 44949222437 scopus 로고    scopus 로고
    • Variation in CYP1A2 activity and its clinical implications: Influence of environmental factors and genetic polymorphisms
    • Gunes A, Dahl ML. Variation in CYP1A2 activity and its clinical implications: influence of environmental factors and genetic polymorphisms. Pharmacogenomics 2008; 9:625-637.
    • (2008) Pharmacogenomics , vol.9 , pp. 625-637
    • Gunes, A.1    Dahl, M.L.2
  • 20
    • 78049231959 scopus 로고    scopus 로고
    • Home page of the human Cytochrome P450 (CYP) allele nomenclature committee Accessed 2010
    • Home page of the human Cytochrome P450 (CYP) allele nomenclature committee: http://www.cypalleles.ki.se/. [Accessed 2010].
  • 21
    • 0035755351 scopus 로고    scopus 로고
    • Integrating genotype and phenotype information: An overview of the PharmGKB project. Pharmacogenetics research network and knowledge base
    • Klein TE, Chang JT, Cho MK, Easton KL, Fergerson R, Hewett M, et al. Integrating genotype and phenotype information: an overview of the PharmGKB project. Pharmacogenetics research network and knowledge base. Pharmacogenomics J 2001; 1:167-170.
    • (2001) Pharmacogenomics J , vol.1 , pp. 167-170
    • Klein, T.E.1    Chang, J.T.2    Cho, M.K.3    Easton, K.L.4    Fergerson, R.5    Hewett, M.6
  • 22
    • 78049304100 scopus 로고    scopus 로고
    • NCBI dbSNP 129 Accessed 2009
    • NCBI dbSNP 129: http://www.ncbi.nlm.nih.gov/. [Accessed 2009].
  • 23
    • 33846040066 scopus 로고    scopus 로고
    • NIEHS SNPs University of Washington, Seattle, WA Accessed January 2009
    • NIEHS SNPs. NIEHS Environmental Genome Project, University of Washington, Seattle, WA: http://egp.gs.washington.edu. [Accessed January 2009].
    • NIEHS Environmental Genome Project
  • 24
    • 9144230034 scopus 로고    scopus 로고
    • Six novel nonsynonymous CYP1A2 gene polymorphisms: Catalytic activities of the naturally occurring variant enzymes
    • Murayama N, Soyama A, Saito Y, Nakajima Y, Komamura K, Ueno K, et al. Six novel nonsynonymous CYP1A2 gene polymorphisms: catalytic activities of the naturally occurring variant enzymes. J Pharmacol Exp Ther 2004; 308:300-306.
    • (2004) J Pharmacol Exp Ther , vol.308 , pp. 300-306
    • Murayama, N.1    Soyama, A.2    Saito, Y.3    Nakajima, Y.4    Komamura, K.5    Ueno, K.6
  • 26
    • 0002907949 scopus 로고
    • The interaction of selection and linkage. I. General considerations; Heterotic models
    • Lewontin RC. The interaction of selection and linkage. I. General considerations; heterotic models. Genetics 1964; 49:49-67.
    • (1964) Genetics , vol.49 , pp. 49-67
    • Lewontin, R.C.1
  • 27
    • 0034017850 scopus 로고    scopus 로고
    • GOLD-graphical overview of linkage disequilibrium
    • Abecasis GR, Cookson WO. GOLD-graphical overview of linkage disequilibrium. Bioinformatics 2000; 16:182-183.
    • (2000) Bioinformatics , vol.16 , pp. 182-183
    • Abecasis, G.R.1    Cookson, W.O.2
  • 28
    • 85007110786 scopus 로고    scopus 로고
    • Arlequin (version 3.0): An integrated software package for population genetics data analysis
    • Excoffier L, Laval G, Schneider S. Arlequin (version 3.0): an integrated software package for population genetics data analysis. Evol Bioinform Online 2005; 1:47-50.
    • (2005) Evol Bioinform Online , vol.1 , pp. 47-50
    • Excoffier, L.1    Laval, G.2    Schneider, S.3
  • 29
    • 4444327033 scopus 로고    scopus 로고
    • Gametic phase estimation over large genomic regions using an adaptive window approach
    • Excoffier L, Laval G, Balding D. Gametic phase estimation over large genomic regions using an adaptive window approach. Hum Genomics 2003; 1:7-19.
    • (2003) Hum Genomics , vol.1 , pp. 7-19
    • Excoffier, L.1    Laval, G.2    Balding, D.3
  • 31
    • 0030454565 scopus 로고    scopus 로고
    • Testing differentiation in diploid populations
    • Goudet J, Raymond M, de Meeus T, Rousset F. Testing differentiation in diploid populations. Genetics 1996; 144:1933-1940.
    • (1996) Genetics , vol.144 , pp. 1933-1940
    • Goudet, J.1    Raymond, M.2    De Meeus, T.3    Rousset, F.4
  • 32
    • 0029048325 scopus 로고
    • Testing heterozygote excess and deficiency
    • Rousset F, Raymond M. Testing heterozygote excess and deficiency. Genetics 1995; 140:1413-1419.
    • (1995) Genetics , vol.140 , pp. 1413-1419
    • Rousset, F.1    Raymond, M.2
  • 33
    • 0021038163 scopus 로고
    • Estimation of the coancestry coefficient: Basis for a short-term genetic distance
    • Reynolds J, Weir BS, Cockerham CC. Estimation of the coancestry coefficient: basis for a short-term genetic distance. Genetics 1983; 105:767-779.
    • (1983) Genetics , vol.105 , pp. 767-779
    • Reynolds, J.1    Weir, B.S.2    Cockerham, C.C.3
  • 34
    • 0026681074 scopus 로고
    • Analysis of molecular variance inferred from metric distances among DNA haplotypes: Application to human mitochondrial DNA restriction data
    • Excoffier L, Smouse PE, Quattro JM. Analysis of molecular variance inferred from metric distances among DNA haplotypes: application to human mitochondrial DNA restriction data. Genetics 1992; 131:479-491.
    • (1992) Genetics , vol.131 , pp. 479-491
    • Excoffier, L.1    Smouse, P.E.2    Quattro, J.M.3
  • 35
    • 0000071395 scopus 로고
    • Some distance properties of latent root and vector methods used in multivariate analysis
    • Gower JC. Some distance properties of latent root and vector methods used in multivariate analysis. Biometrika 1966; 53:325-328.
    • (1966) Biometrika , vol.53 , pp. 325-328
    • Gower, J.C.1
  • 37
    • 53549126881 scopus 로고    scopus 로고
    • The potentially deleterious functional variant flavin-containing monooxygenase 2*1 is at high frequency throughout sub-Saharan Africa
    • Veeramah KR,Thomas MG,Weale ME, Zeitlyn D,Tarekegn A, Bekele E, et al. The potentially deleterious functional variant flavin-containing monooxygenase 2*1 is at high frequency throughout sub-Saharan Africa. Pharmacogenet Genomics 2008; 18:877-886.
    • (2008) Pharmacogenet Genomics , vol.18 , pp. 877-886
    • Veeramah, K.R.1    Thomas, M.G.2    Weale, M.E.3    Zeitlyn, D.4    Tarekegn, A.5    Bekele, E.6
  • 39
    • 0032900678 scopus 로고    scopus 로고
    • Median-joining networks for inferring intraspecific phylogenies
    • Bandelt HJ, Forster P, Rohl A. Median-joining networks for inferring intraspecific phylogenies. Mol Biol Evol 1999; 16:37-48.
    • (1999) Mol Biol Evol , vol.16 , pp. 37-48
    • Bandelt, H.J.1    Forster, P.2    Rohl, A.3
  • 40
    • 78049308587 scopus 로고    scopus 로고
    • Fluxus-engineering.com Accessed 2009
    • Fluxus-engineering.com: http://www.fluxus-engineering.com/. [Accessed 2009].
  • 41
    • 0024313579 scopus 로고
    • Statistical method for testing the neutral mutation hypothesis by DNA polymorphism
    • Tajima F. Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 1989; 123:585-595.
    • (1989) Genetics , vol.123 , pp. 585-595
    • Tajima, F.1
  • 42
    • 0026428610 scopus 로고
    • Adaptive protein evolution at the Adh locus in Drosophila
    • McDonald JH, Kreitman M. Adaptive protein evolution at the Adh locus in Drosophila. Nature 1991; 351:652-654.
    • (1991) Nature , vol.351 , pp. 652-654
    • McDonald, J.H.1    Kreitman, M.2
  • 43
    • 0027453041 scopus 로고
    • Statistical tests of neutrality of mutations
    • Fu YX, Li WH. Statistical tests of neutrality of mutations. Genetics 1993; 133:693-709.
    • (1993) Genetics , vol.133 , pp. 693-709
    • Fu, Y.X.1    Li, W.H.2
  • 44
    • 65649117685 scopus 로고    scopus 로고
    • DnaSP v5: A software for comprehensive analysis of DNA polymorphism data
    • Librado P, Rozas J. DnaSP v5: a software for comprehensive analysis of DNA polymorphism data. Bioinformatics 2009; 25:1451-1452.
    • (2009) Bioinformatics , vol.25 , pp. 1451-1452
    • Librado, P.1    Rozas, J.2
  • 46
    • 23344452123 scopus 로고    scopus 로고
    • Effects of natural selection on interpopulation divergence at polymorphic sites in human protein-coding Loci
    • Hughes AL, Packer B, Welch R, Bergen AW, Chanock SJ, Yeager M. Effects of natural selection on interpopulation divergence at polymorphic sites in human protein-coding Loci. Genetics 2005; 170:1181-1187.
    • (2005) Genetics , vol.170 , pp. 1181-1187
    • Hughes, A.L.1    Packer, B.2    Welch, R.3    Bergen, A.W.4    Chanock, S.J.5    Yeager, M.6
  • 48
    • 0028816747 scopus 로고
    • A measure of population subdivision based on microsatellite allele frequencies
    • Slatkin M. A measure of population subdivision based on microsatellite allele frequencies. Genetics 1995; 139:457-462.
    • (1995) Genetics , vol.139 , pp. 457-462
    • Slatkin, M.1
  • 49
    • 0142027594 scopus 로고    scopus 로고
    • Multiple origins of Ashkenazi levites: Y chromosome evidence for both Near Eastern and European ancestries
    • Behar DM, Thomas MG, Skorecki K, Hammer MF, Bulygina E, Rosengarten D, et al. Multiple origins of Ashkenazi levites: Y chromosome evidence for both Near Eastern and European ancestries. Am J Hum Genet 2003; 73:768-779.
    • (2003) Am J Hum Genet , vol.73 , pp. 768-779
    • Behar, D.M.1    Thomas, M.G.2    Skorecki, K.3    Hammer, M.F.4    Bulygina, E.5    Rosengarten, D.6
  • 50
    • 0031960960 scopus 로고    scopus 로고
    • Mutational mechanisms for generating microsatellite allele-frequency distributions: An analysis of 4558 markers
    • Farrall M, Weeks DE. Mutational mechanisms for generating microsatellite allele-frequency distributions: an analysis of 4558 markers. Am J Hum Genet 1998; 62:1260-1262.
    • (1998) Am J Hum Genet , vol.62 , pp. 1260-1262
    • Farrall, M.1    Weeks, D.E.2
  • 51
    • 0033910668 scopus 로고    scopus 로고
    • New estimates of intergenerational time intervals for the calculation of age and origins of mutations
    • Tremblay M, Vezina H. New estimates of intergenerational time intervals for the calculation of age and origins of mutations. Am J Hum Genet 2000; 66:651-658.
    • (2000) Am J Hum Genet , vol.66 , pp. 651-658
    • Tremblay, M.1    Vezina, H.2
  • 52
    • 0020991680 scopus 로고
    • Rare variant alleles in the light of the neutral theory
    • Kimura M. Rare variant alleles in the light of the neutral theory. Mol Biol Evol 1983; 1:84-93.
    • (1983) Mol Biol Evol , vol.1 , pp. 84-93
    • Kimura, M.1
  • 53
    • 19444368979 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay in mammals
    • Maquat LE. Nonsense-mediated mRNA decay in mammals. J Cell Sci 2005; 118:1773-1776.
    • (2005) J Cell Sci , vol.118 , pp. 1773-1776
    • Maquat, L.E.1
  • 55
    • 0037838823 scopus 로고    scopus 로고
    • Intrinsic hepatic phenotype associated with the Cyp1a2 gene as shown by cDNA expression microarray analysis of the knockout mouse
    • Smith AG, Davies R, Dalton TP, Miller ML, Judah D, Riley J, et al. Intrinsic hepatic phenotype associated with the Cyp1a2 gene as shown by cDNA expression microarray analysis of the knockout mouse. EHP Toxicogenomics 2003; 111:45-51.
    • (2003) EHP Toxicogenomics , vol.111 , pp. 45-51
    • Smith, A.G.1    Davies, R.2    Dalton, T.P.3    Miller, M.L.4    Judah, D.5    Riley, J.6
  • 57
    • 78049256462 scopus 로고    scopus 로고
    • The 1994 population and housing census for Ethiopia
    • Federal Democratic Republic of Ethiopia Office of Population and Housing Census Commission Central Statistical Authority Analytical report. Addis Ababa: Central Statistical Authority
    • Federal Democratic Republic of Ethiopia Office of Population and Housing Census Commission Central Statistical Authority. The 1994 population and housing census for Ethiopia. Results at country level. Volume 2 analytical report. Addis Ababa: Central Statistical Authority; 1999.
    • Results at Country Level , vol.2 , pp. 1999
  • 58
    • 0242524432 scopus 로고    scopus 로고
    • Patterns of human genetic diversity: Implications for human evolutionary history and disease
    • Tishkoff SA, Verrelli BC. Patterns of human genetic diversity: implications for human evolutionary history and disease. Annu Rev Genomics Hum Genet 2003; 4:293-340.
    • (2003) Annu Rev Genomics Hum Genet , vol.4 , pp. 293-340
    • Tishkoff, S.A.1    Verrelli, B.C.2
  • 59
    • 13944279562 scopus 로고    scopus 로고
    • Stratigraphic placement and age of modern humans from Kibish, Ethiopia
    • McDougall I, Brown FH, Fleagle JG. Stratigraphic placement and age of modern humans from Kibish, Ethiopia. Nature 2005; 433:733-736.
    • (2005) Nature , vol.433 , pp. 733-736
    • McDougall, I.1    Brown, F.H.2    Fleagle, J.G.3
  • 62
    • 6344240884 scopus 로고    scopus 로고
    • Genetic polymorphism of CYP1A2 increases the risk of myocardial infarction
    • Cornelis MC, El Sohemy A, Campos H. Genetic polymorphism of CYP1A2 increases the risk of myocardial infarction. J Med Genet 2004; 41:758-762.
    • (2004) J Med Genet , vol.41 , pp. 758-762
    • Cornelis, M.C.1    El Sohemy, A.2    Campos, H.3


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