메뉴 건너뛰기




Volumn 13, Issue 4, 2003, Pages 207-218

Information theory-based analysis of CYP2C19, CYP2D6 and CYP3A5 splicing mutations

Author keywords

Cytochrome P450; Drug biotransformation; Individual information; Information theory; mRNA splicing; Single nucleotide polymorphism

Indexed keywords

CYTOCHROME P450 2C19; CYTOCHROME P450 2D6; CYTOCHROME P450 3A5;

EID: 0038070292     PISSN: 0960314X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008571-200304000-00005     Document Type: Article
Times cited : (55)

References (41)
  • 3
    • 0026506140 scopus 로고
    • Pronounced differences between native Chinese and Swedish populations in the polymorphic hydroxylations of debrisoquin and S-mephenytoin
    • Bertilsson L, Lou Y-Q, Du Y-L, Liu Y, Kuang T-Y, Liao X-M, et al. Pronounced differences between native Chinese and Swedish populations in the polymorphic hydroxylations of debrisoquin and S-mephenytoin. Clin Pharmacol Ther 1992; 51:388-397.
    • (1992) Clin Pharmacol Ther , vol.51 , pp. 388-397
    • Bertilsson, L.1    Lou, Y.-Q.2    Du, Y.-L.3    Liu, Y.4    Kuang, T.-Y.5    Liao, X.-M.6
  • 4
    • 0021237993 scopus 로고
    • Pharmacogenetics of mephenytoin: A new drug hydroxylation polymorphism in man
    • Küpfer A, Preisig R. Pharmacogenetics of mephenytoin: a new drug hydroxylation polymorphism in man. Eur J Clin Pharmacol 1984; 26:753-759.
    • (1984) Eur J Clin Pharmacol , vol.26 , pp. 753-759
    • Küpfer, A.1    Preisig, R.2
  • 5
    • 0028590127 scopus 로고
    • Biochemistry and molecular biology of the human CYP2C subfamily
    • Goldstein JA, de Morais SMF. Biochemistry and molecular biology of the human CYP2C subfamily. Pharmacogenetics 1994; 4:285-299.
    • (1994) Pharmacogenetics , vol.4 , pp. 285-299
    • Goldstein, J.A.1    De Morais, S.M.F.2
  • 6
    • 0033569516 scopus 로고    scopus 로고
    • Pharmacogenomics: Translating functional genomics into rational therapeutics
    • Evans WE, Relling MV. Pharmacogenomics: translating functional genomics into rational therapeutics. Science 1999; 286:487-491.
    • (1999) Science , vol.286 , pp. 487-491
    • Evans, W.E.1    Relling, M.V.2
  • 7
    • 0035071598 scopus 로고    scopus 로고
    • Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression
    • Kuehl P, Zhang J, Lin Y, Lamba J, Assem M, Schuetz J, et al. Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression. Nature Genet 2001; 27:383-391.
    • (2001) Nature Genet , vol.27 , pp. 383-391
    • Kuehl, P.1    Zhang, J.2    Lin, Y.3    Lamba, J.4    Assem, M.5    Schuetz, J.6
  • 8
    • 0030860004 scopus 로고    scopus 로고
    • Polymorphism of the cytochrome P450 CYP2D6 gene in a European population: Characterization of 48 mutations and 53 alleles, their frequencies and evolution
    • Marez D, Legrand M, Sabbagh N, Lo Guidice J-M, Spire C, Lafitte J-J, et al. Polymorphism of the cytochrome P450 CYP2D6 gene in a European population: characterization of 48 mutations and 53 alleles, their frequencies and evolution. Pharmacogenetics 1997; 7:193-202.
    • (1997) Pharmacogenetics , vol.7 , pp. 193-202
    • Marez, D.1    Legrand, M.2    Sabbagh, N.3    Lo Guidice, J.-M.4    Spire, C.5    Lafitte, J.-J.6
  • 9
    • 0031038038 scopus 로고    scopus 로고
    • Cytochrome P450 2D6 variants in a Caucasian population: Allele frequencies and phenotypic consequences
    • Sachse C, Brockmöller J, Bauer S, Roots I. Cytochrome P450 2D6 variants in a Caucasian population: allele frequencies and phenotypic consequences. Am J Hum Genet 1997; 60:284-295.
    • (1997) Am J Hum Genet , vol.60 , pp. 284-295
    • Sachse, C.1    Brockmöller, J.2    Bauer, S.3    Roots, I.4
  • 10
    • 0031884233 scopus 로고    scopus 로고
    • Assessment of the predictive power of genotypes for the in-vivo catalytic function of CYP2D6 in a German population
    • Griese E-U, Zanger U, Brudermanns U, Gaedigk A, Mikus G, Mörike K, et al. Assessment of the predictive power of genotypes for the in-vivo catalytic function of CYP2D6 in a German population. Pharmacogenetics 1998; 8:15-26.
    • (1998) Pharmacogenetics , vol.8 , pp. 15-26
    • Griese, E.-U.1    Zanger, U.2    Brudermanns, U.3    Gaedigk, A.4    Mikus, G.5    Mörike, K.6
  • 11
    • 0033461165 scopus 로고    scopus 로고
    • Optimization of cytochrome P450 2D6 (CYP2D6) phenotype assignment using a genotyping algorithm based on allele frequency data
    • Gaedigk A, Gotschall RR, Forbes NS, Simon SD, Kearns GL, Leeder JS. Optimization of cytochrome P450 2D6 (CYP2D6) phenotype assignment using a genotyping algorithm based on allele frequency data. Pharmacogenetics 1999; 9:669-682.
    • (1999) Pharmacogenetics , vol.9 , pp. 669-682
    • Gaedigk, A.1    Gotschall, R.R.2    Forbes, N.S.3    Simon, S.D.4    Kearns, G.L.5    Leeder, J.S.6
  • 12
    • 0028826569 scopus 로고
    • A novel CYP2D6 allele with an abolished splice recognition site associated with the poor metabolizer phenotype
    • Marez D, Sabbagh N, Legrand M, Lo Guidice JM, Boone P, Broly F. A novel CYP2D6 allele with an abolished splice recognition site associated with the poor metabolizer phenotype. Pharmacogenetics 1995; 5:305-311.
    • (1995) Pharmacogenetics , vol.5 , pp. 305-311
    • Marez, D.1    Sabbagh, N.2    Legrand, M.3    Lo Guidice, J.M.4    Boone, P.5    Broly, F.6
  • 14
    • 0032797302 scopus 로고    scopus 로고
    • A novel transversion in the intron 5 donor splice junction of CYP2C19 and a sequence polymorphism in exon 3 contribute to the poor metabolizer phenotype for the anticonvulsant drug S-mephenytoin
    • Ibeanu GC, Blaisdell J, Ferguson RJ, Ghanayem BI, Brøsen K, Benhamou S, et al. A novel transversion in the intron 5 donor splice junction of CYP2C19 and a sequence polymorphism in exon 3 contribute to the poor metabolizer phenotype for the anticonvulsant drug S-mephenytoin. J Pharmacol Exp Ther 1999; 290:635-640.
    • (1999) J Pharmacol Exp Ther , vol.290 , pp. 635-640
    • Ibeanu, G.C.1    Blaisdell, J.2    Ferguson, R.J.3    Ghanayem, B.I.4    Brøsen, K.5    Benhamou, S.6
  • 15
    • 0028865992 scopus 로고
    • A multifamily study on the relationship between CYP2C19 genotype and S-mephenytoin oxidation phenotype
    • Brøsen K, de Morais SMF, Meyer UA, Goldstein JA. A multifamily study on the relationship between CYP2C19 genotype and S-mephenytoin oxidation phenotype. Pharmacogenetics 1995; 5:312-317.
    • (1995) Pharmacogenetics , vol.5 , pp. 312-317
    • Brøsen, K.1    De Morais, S.M.F.2    Meyer, U.A.3    Goldstein, J.A.4
  • 18
    • 17744397194 scopus 로고    scopus 로고
    • Genomic organization of the human CYP3A locus: Identification of a new inducible CYP3A gene
    • Gellner K, Eiselt R, Hustert E, Arnold H, Koch I, Haberl M, et al. Genomic organization of the human CYP3A locus: identification of a new inducible CYP3A gene. Pharmacogenetics 2001; 11:111-121.
    • (2001) Pharmacogenetics , vol.11 , pp. 111-121
    • Gellner, K.1    Eiselt, R.2    Hustert, E.3    Arnold, H.4    Koch, I.5    Haberl, M.6
  • 19
    • 0034874776 scopus 로고    scopus 로고
    • Genetic polymorphism of cytochrome P450 3A5 in Chinese
    • Chou F-C, Tzeng S-J, Huang J-D. Genetic polymorphism of cytochrome P450 3A5 in Chinese. Drug Metab Disp 2001; 29:1205-1209.
    • (2001) Drug Metab Disp , vol.29 , pp. 1205-1209
    • Chou, F.-C.1    Tzeng, S.-J.2    Huang, J.-D.3
  • 20
    • 0023854270 scopus 로고
    • Characterization of the common genetic defect in humans deficient in debrisoquine metabolism
    • Gonzalez FJ, Skoda RC, Kimura S, Umeno M, Zanger UM, Nebert DW, et al. Characterization of the common genetic defect in humans deficient in debrisoquine metabolism. Nature 1988; 331:442-446.
    • (1988) Nature , vol.331 , pp. 442-446
    • Gonzalez, F.J.1    Skoda, R.C.2    Kimura, S.3    Umeno, M.4    Zanger, U.M.5    Nebert, D.W.6
  • 21
    • 0031583033 scopus 로고    scopus 로고
    • Information content of individual genetic sequences
    • Schneider TD. Information content of individual genetic sequences. J Theoret Biol 1997; 189:427-441.
    • (1997) J Theoret Biol , vol.189 , pp. 427-441
    • Schneider, T.D.1
  • 22
    • 0030658850 scopus 로고    scopus 로고
    • Sequence walkers: A graphical method to display how binding proteins interact with DNA or RNA sequences
    • Schneider TD. Sequence walkers: a graphical method to display how binding proteins interact with DNA or RNA sequences. Nucl Acids Res 1997; 25:4408-4415.
    • (1997) Nucl Acids Res , vol.25 , pp. 4408-4415
    • Schneider, T.D.1
  • 23
    • 0028895417 scopus 로고
    • Exon recognition in vertebrate splicing
    • Berget SM. Exon recognition in vertebrate splicing. J Biol Chem 1995; 270:2411-2414.
    • (1995) J Biol Chem , vol.270 , pp. 2411-2414
    • Berget, S.M.1
  • 24
    • 0029009677 scopus 로고
    • Using informatrion content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites
    • Rogan PK, Schneider TD. Using informatrion content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites. Hum Mutat 1995; 6:74-76.
    • (1995) Hum Mutat , vol.6 , pp. 74-76
    • Rogan, P.K.1    Schneider, T.D.2
  • 26
    • 0032561116 scopus 로고    scopus 로고
    • Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the A3/A1-crystallin gene
    • Kannabiran C, Rogan PK, Basti S, Rao GN, Kaiser-Kupfer M, Hejtmancik JF. Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the A3/A1-crystallin gene. Mol Vision 1998; 4:21-26.
    • (1998) Mol Vision , vol.4 , pp. 21-26
    • Kannabiran, C.1    Rogan, P.K.2    Basti, S.3    Rao, G.N.4    Kaiser-Kupfer, M.5    Hejtmancik, J.F.6
  • 27
    • 0032212402 scopus 로고    scopus 로고
    • Mutations that alter RNA splicing of the human HPRT gene: A review of the spectrum
    • O'Neill JP, Rogan PK, Cariello N, Nicklas JA. Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum. Mutation Res 1998; 411:179-214.
    • (1998) Mutation Res , vol.411 , pp. 179-214
    • O'Neill, J.P.1    Rogan, P.K.2    Cariello, N.3    Nicklas, J.A.4
  • 28
    • 0031880376 scopus 로고    scopus 로고
    • Information analysis of human splice site mutations
    • Rogan PK, Faux BM, Schneider TD. Information analysis of human splice site mutations. Hum Mutat 1998; 12:153-171.
    • (1998) Hum Mutat , vol.12 , pp. 153-171
    • Rogan, P.K.1    Faux, B.M.2    Schneider, T.D.3
  • 29
    • 0033578466 scopus 로고    scopus 로고
    • Splice-site mutations in atherosclerosis candidate genes. Relating individual information to phenotype
    • von Kodolitsch Y, Pyeritz RE, Rogan PK. Splice-site mutations in atherosclerosis candidate genes. Relating individual information to phenotype. Circulation 1999; 100:693-699.
    • (1999) Circulation , vol.100 , pp. 693-699
    • Von Kodolitsch, Y.1    Pyeritz, R.E.2    Rogan, P.K.3
  • 30
    • 0033857118 scopus 로고    scopus 로고
    • Redundant designations of BRCA1 intron 11 splicing mutation
    • Svojanovsky SR, Schneider TD, Rogan PK. Redundant designations of BRCA1 intron 11 splicing mutation. Hum Mut 2000; 16:264.
    • (2000) Hum Mut , vol.16 , pp. 264
    • Svojanovsky, S.R.1    Schneider, T.D.2    Rogan, P.K.3
  • 31
    • 0033912292 scopus 로고    scopus 로고
    • An unusually high frequency of abnormal splicing of IVD RNA in isovaleric acidemia, including exon skipping caused by missense mutations in the IVD gene
    • Vockley J, Rogan PK, Anderson BD, Willard J, Seelan RS, Smith DI, et al. An unusually high frequency of abnormal splicing of IVD RNA in isovaleric acidemia, including exon skipping caused by missense mutations in the IVD gene. Am J Hum Genet 2000; 66:356-367.
    • (2000) Am J Hum Genet , vol.66 , pp. 356-367
    • Vockley, J.1    Rogan, P.K.2    Anderson, B.D.3    Willard, J.4    Seelan, R.S.5    Smith, D.I.6
  • 32
    • 0024796958 scopus 로고
    • The human debrisoquine 4-hydroxylase (CYP2D) locus: Sequence and identification of the polymorphic CYP2D6 gene, a related gene, and a pseudogene
    • Kimura S, Umeno M, Skoda RC, Meyer UA, Gonzalez FJ. The human debrisoquine 4-hydroxylase (CYP2D) locus: sequence and identification of the polymorphic CYP2D6 gene, a related gene, and a pseudogene. Am J Hum Genet 1989; 45:889-904.
    • (1989) Am J Hum Genet , vol.45 , pp. 889-904
    • Kimura, S.1    Umeno, M.2    Skoda, R.C.3    Meyer, U.A.4    Gonzalez, F.J.5
  • 33
    • 0025243460 scopus 로고
    • 1934>A base change in intron 3 of a mutant CYP2D6 allele results in an aberrant 3′ splice recognition site
    • 1934>A base change in intron 3 of a mutant CYP2D6 allele results in an aberrant 3′ splice recognition site. Am J Hum Genet 1990; 47:994-1001.
    • (1990) Am J Hum Genet , vol.47 , pp. 994-1001
    • Hanioka, N.1    Kimura, S.2    Meyer, U.A.3    Gonzalez, F.J.4
  • 34
    • 0027054380 scopus 로고
    • Features of splicesome evolution and function inferred from an analysis of information at human splice sites
    • Stephens RM, Schneider TD. Features of splicesome evolution and function inferred from an analysis of information at human splice sites. J Mol Biol 1992; 228:1124-1136.
    • (1992) J Mol Biol , vol.228 , pp. 1124-1136
    • Stephens, R.M.1    Schneider, T.D.2
  • 35
    • 0026629691 scopus 로고
    • Evolution of highly polymorphic human cytochrome P450 gene cluster: CYP2D6
    • Heim MH, Meyer UA. Evolution of highly polymorphic human cytochrome P450 gene cluster: CYP2D6. Genomics 1992; 14:49-58.
    • (1992) Genomics , vol.14 , pp. 49-58
    • Heim, M.H.1    Meyer, U.A.2
  • 36
    • 0037102580 scopus 로고    scopus 로고
    • The human XPC DNA repair gene: Arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function
    • Khan SG, Muniz-Medina V, Shahlavi T, Baker CC, Inui H, Ueda T, et al. The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function. Nucl Acids Res 2002; 30:3624-3631.
    • (2002) Nucl Acids Res , vol.30 , pp. 3624-3631
    • Khan, S.G.1    Muniz-Medina, V.2    Shahlavi, T.3    Baker, C.C.4    Inui, H.5    Ueda, T.6
  • 37
    • 0028366003 scopus 로고
    • Conserved sequences in a class of rare eukaryotic nuclear introns with non-consensus splice sites
    • Hall SL, Padgett RA. Conserved sequences in a class of rare eukaryotic nuclear introns with non-consensus splice sites. J Mol Biol 1994; 239:357-365.
    • (1994) J Mol Biol , vol.239 , pp. 357-365
    • Hall, S.L.1    Padgett, R.A.2
  • 38
    • 0036606302 scopus 로고    scopus 로고
    • Splice variants but not mutations of DNA polymerase b are common in bladder cancer
    • Thompson TE, Rogan PK, Risinger JI, Taylor JA. Splice variants but not mutations of DNA polymerase b are common in bladder cancer. Cancer Res 2002; 62:3251-3256.
    • (2002) Cancer Res , vol.62 , pp. 3251-3256
    • Thompson, T.E.1    Rogan, P.K.2    Risinger, J.I.3    Taylor, J.A.4
  • 39
    • 0032963135 scopus 로고    scopus 로고
    • G169R mutation diminishes the metabolic activity of CYP2D6 in Chinese
    • Wang S-L, Lai M-D, Huang J-D. G169R mutation diminishes the metabolic activity of CYP2D6 in Chinese. Drug Metab Disp 1999; 27:385-388.
    • (1999) Drug Metab Disp , vol.27 , pp. 385-388
    • Wang, S.-L.1    Lai, M.-D.2    Huang, J.-D.3
  • 40
    • 0030914738 scopus 로고    scopus 로고
    • Molecular modelling of cytochrome P4502D6 (CYP2D6) based on an alignment with CYP102: Structural studies on specific CYP2D6 substrate metabolism
    • Lewis DFW, Eddershaw PJ, Goldfarb PS, Tarbit MH. Molecular modelling of cytochrome P4502D6 (CYP2D6) based on an alignment with CYP102: structural studies on specific CYP2D6 substrate metabolism. Xenobiotica 1997; 27:319-340.
    • (1997) Xenobiotica , vol.27 , pp. 319-340
    • Lewis, D.F.W.1    Eddershaw, P.J.2    Goldfarb, P.S.3    Tarbit, M.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.