- Lander, E.S. et al. Initial sequencing and analysis of the human genome. Nature 409, 860–921 (2001).
Article CAS Google Scholar
- Venter, J.C. et al. The sequence of the human genome. Science 291, 1304–1351 (2001).
Article CAS Google Scholar
- Collins, F.S., Brooks, L.D. & Chakravarti, A. A DNA polymorphism discovery resource for research on human genetic variation. Genome Res. 8, 1229–1231 (1998).
Article CAS Google Scholar
- Collins, F.S., Guyer, M.S. & Chakravarti, A. Variations on a theme: cataloging human DNA sequence variation. Science 278, 1580–1581 (1997).
Article CAS Google Scholar
- Evans, W.E. & Relling, M.V. Pharmacogenomics: translating functional genomics into rational therapeutics. Science 286, 487–491 (1999).
Article CAS Google Scholar
- Rendic, S. & DiCarlo, F.J. Human cytochrome P450 enzymes: a status report summarizing their reactions, substrates, inducers, and inhibitors. Drug Metab. Rev. 29, 413–580 (1997).
Article CAS Google Scholar
- Cholerton, S., Daly, A.K. & Idle, J.R. The role of individual human cytochromes P450 in drug metabolism and clinical response. Trends Pharmacol. Sci. 13, 434–439 (1992).
Article CAS Google Scholar
- Shimada, T., Yamazake, H., Mimura, M., Inui, Y. & Guengerich, F.P. 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. 270, 414–423 (1994).
CAS PubMed Google Scholar
- Watkins, P.B. Cyclosporine and liver transplantation: will the midazolam test make blood level monitoring obsolete? Hepatology 22, 994–996 (1995).
CAS PubMed Google Scholar
- Kivisto, K.T., Koremer, H.K. & Eichelbaum, M. The role of human cytochrome P450 enzymes in the metabolism of anticancer agents: implications for drug interactions. Br. J. Clin. Pharmacol. 40, 523–530 (1995).
Article CAS Google Scholar
- Huang, Z., Guengerich, F.P. & Kaminsky, L.S. 16α-hydroxylation of estrone by human cytochrome P4503A4/5. Carcinogenesis 19, 867–872 (1998).
Article CAS Google Scholar
- Finta, C. & Zaphiropoulos, P.G. The human cytochrome P4503A locus. Gene evolution by capture of downstream exons. Gene 260, 13–23 (2000).
Article CAS Google Scholar
- Schuetz, J.D., Beach, D.L. & Guzelian, P.S. Selective expression of cytochrome P450 CYP3A mRNAs in embryonic and adult human liver. Pharmacogenetics 4, 11–20 (1994).
Article CAS Google Scholar
- Wrighton, S.A., Ring, B.J., Watkins, P.B. & Vandenbranden, M. Identification of a polymorphically expressed member of the human cytochrome P-450III family. Mol. Pharmacol. 36, 97–105 (1989).
CAS PubMed Google Scholar
- Schuetz, J.D., Molowa, D.T. & Guzelian, P.S. Characterisation of a cDNA encoding a new member of the glucocorticoid-responsive cytochromes P450 in human liver. Arch. Biochem. Biophys. 274, 355–365 (1989).
Article CAS Google Scholar
- Paine, M.F. et al. Characterization of interintestinal and intrainestinal variations in human CYP3A-dependent metabolism. J. Pharmacol. Exp. Ther. 283, 1552–1562 (1997).
CAS PubMed Google Scholar
- Paulussen, A. et al. Two linked mutations in transcriptional regulatory elements of the CYP3A5 gene constitute the major genetic determinant of polymorphic activity in humans. Pharmacogenetics 10, 415–424 (2000).
Article CAS Google Scholar
- Lehmann, J.M. et al. The human orphan nuclear receptor PXR is activated by compounds that regulate CYP3A4 gene expression and cause drug interactions. J. Clin. Invest. 102, 1–8 (1998).
Article Google Scholar
- Blumberg, B. et al. SXR, a novel steroid and xenobiotic sensing nuclear receptor. Genes Dev. 12, 3195–3205 (1998).
Article CAS Google Scholar
- Rebbeck, T.R., Jaffe, J.A., Walker, A.H., Wein, A.J. & Malkowicz, S.B. Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4. J. Natl. Cancer Inst. 90, 1225–1229 (1998).
Article CAS Google Scholar
- Gonzalez, F.J. The molecular biology of cytochrome P450s. Pharmacol. Rev. 40, 243–288 (1989).
Google Scholar
- Sata, F. et al. CYP3A4 allelic variants with amino acid substitutions in exons 7 and 12: evidence for an allelic variant with altered catalytic activity. Clin. Pharmacol. Ther. 67, 48–56 (2000).
Article CAS Google Scholar
- Goodwin, B.J., Hodgson, E. & Liddle, C. The orphan human pregnane X receptor mediates the transcriptional activation of CYP3A4 by rifampicin through a distal enhancer module. Mol. Pharmacol. 56, 1329–1339 (1999).
Article CAS Google Scholar
- Aoyama, T. et al. Cytochrome P-450 hPCN3, a novel cytochrome P-450 IIIA gene product that is differentially expressed in adult human liver. J. Biol. Chem. 264, 10388–10395 (1989).
CAS PubMed Google Scholar
- Maquat, L.E. When cells stop making sense: effects of nonsense codons on mRNA metabolism in vertebrate cells. RNA 1, 453–465 (1995).
CAS PubMed PubMed Central Google Scholar
- Maquat, L.E. The power of point mutations. Nature Genet. 27, 5 (2001).
Article CAS Google Scholar
- Jounaidi, Y., Hyrailles, V., Gervot, L. & Maurel, P. Detection of a CYP3A5 allelic variant: a candidate for the polymorphic expression of the protein? Biochem. Biophys. Res. Commun. 221, 466–470 (1996).
Article CAS Google Scholar
- Gorski, J.C., Hall, S.D., Jones, D.R., BandenBranden, M. & Wrighton, S.A. Regioselective biotransformation of midazolam by members of the human cytochrome P4503A (CYP3A) subfamily. Biochem. Pharm. 47, 1643–1653 (1994).
Article CAS Google Scholar
- Felix, C.A. et al. Association of CYP3A4 genotype with treatment-related leukemia. Proc. Natl. Acad. Sci. USA 95, 13176–13181 (1998).
Article CAS Google Scholar
- Paris, P.L. et al. Association between a CYP3A4 genetic variant and clinical presentation in African-American prostate cancer patients. Cancer Epidemiol. Biomarkers Prev. 8, 901–905 (1999).
CAS PubMed Google Scholar
- Westlind, A., Lofberg, L., Tindberg, N., Andersson, T.B. & Ingelman-Sundberg, M. Interindividual differences in hepatic expression of CYP3A4: Relationship to genetic polymorphism in the 5′-upstream regulatory region. Biochem. Biophys. Res. Commun. 259, 201–205 (1999).
Article CAS Google Scholar
- Ball, S.E. et al. Population disribution and effects on drug metabolism of a genetic variant in the 5′ promoter region of CYP3A4. Clin. Pharmacol. Ther. 66, 288–294 (1999).
Article CAS Google Scholar
- Hashimoto, H. et al. Gene structure of CYP3A4, an adult-specific form of cytochrome P450 in human livers, and its transcriptional control. Eur. J. Biochem. 218, 585–595 (1993).
Article CAS Google Scholar
- Cooper, T.A. & Mattox, W. The regulation of splice-site selection, and its role in human disease. Am. J. Hum. Genet. 61, 259–266 (1997).
Article CAS Google Scholar
- Wrighton, S.A. et al. Studies on the expression and metabolic capabilities of human liver cytochrome P450IIIA5 (HLp3). Mol. Pharmacol. 38, 207–213 (1990).
CAS PubMed Google Scholar
- Gillam, E.M.J. et al. Expression of cytochrome P450 3A5 in Escherichia coli: effects of 5′ modification, purification, spectral characterization, reconstitution conditions, and catalytic activities. Arch. Biochem. Biophys. 317, 374–384 (1995).
Article CAS Google Scholar
- Grogan, W.M., Phillips, V.M., Schuetz, E.G., Guzelian, P.S. & Watlington, C.O. Corticosterone 6b-hydroxylase in A6 epithelia: a steroid-inducible cytochrome P-450. Am. J. Physiol. Cell Physiol. 258, C480–C488 (1990).
Article CAS Google Scholar
- Schuetz, E.G. et al. Expression of cytochrome P4503A in amphibian, rat and human kidney. Arch. Biochem. Biophys. 294, 206–214 (1992).
Article CAS Google Scholar
- Haehner, B.D. et al. Bimodal distribution of renal cytochrome P450 3A activity in humans. Mol. Pharmacol. 50, 52–59 (1996).
CAS PubMed Google Scholar
- Halushka, M.K. et al. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nature Genet. 22, 239–247 (1999).
Article CAS Google Scholar
- Cargill, M. et al. Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nature Genet 22, 231–238 (1999).
Article CAS Google Scholar
- Nickerson, D.A., Tobe, V.O. & Taylor, S.L. PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res. 25, 2745–2751 (1997).
Article CAS Google Scholar
- Schuetz, E.G., Beck, W.T. & Schuetz, J.D. Modulators and substrates of P-glycoprotein and cytochrome P4503A coordinately up-regulate these proteins in human colon carcinoma cells. Mol. Pharmacol. 49, 311–318 (1996).
CAS PubMed Google Scholar
- Nebert, D.W. Suggestions for the nomenclature of human alleles: relevance to ecogenetics, pharmacogenetics and molecular epidemiology. Pharmacogenetics 10, 279–290 (2000).
Article CAS Google Scholar