Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Cytochrom P450 3A4

Das CYP3A4-Gen kodiert ein Enzym aus der Cytochrome P450-Oberfamilie. Das Enzym ist am Stoffwechsel von Steroiden (Hormonn und Lipiden) wie auch verschiedenen Medikamenten beteiligt.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Referenzen:

1.

Paolini M et. al. (1999) Co-carcinogenic effect of beta-carotene.

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2.

Nebert DW et. al. (1987) P450 genes: structure, evolution, and regulation.

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3.

Daly AK et. al. (1992) Deficient nifedipine oxidation: a rare inherited trait associated with cystic fibrosis kindreds.

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4.

Inoue K et. al. (1992) Assignment of the human cytochrome P-450 nifedipine oxidase gene (CYP3A4) to chromosome 7 at band q22.1 by fluorescence in situ hybridization.

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5.

Wolf CR et. al. (1992) Relationship between the debrisoquine hydroxylase polymorphism and cancer susceptibility.

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6.

Wrighton SA et. al. (1992) The human hepatic cytochromes P450 involved in drug metabolism.

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7.

Forrester LM et. al. (1990) Evidence for involvement of multiple forms of cytochrome P-450 in aflatoxin B1 metabolism in human liver.

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8.

Shimada T et. al. (1989) Evidence for cytochrome P-450NF, the nifedipine oxidase, being the principal enzyme involved in the bioactivation of aflatoxins in human liver.

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9.

Wrighton SA et. al. (1989) Isolation and characterization of human fetal liver cytochrome P450HLp2: a third member of the P450III gene family.

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10.

Spurr NK et. al. (1989) The human cytochrome P450 CYP3 locus: assignment to chromosome 7q22-qter.

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11.

Brooks BA et. al. (1988) The gene CYP3 encoding P450pcn1 (nifedipine oxidase) is tightly linked to the gene COL1A2 encoding collagen type 1 alpha on 7q21-q22.1.

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12.

Renwick AG et. al. (1988) The pharmacokinetics of oral nifedipine--a population study.

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13.

Gonzalez FJ et. al. (1988) Human P450PCN1: sequence, chromosome localization, and direct evidence through cDNA expression that P450PCN1 is nifedipine oxidase.

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14.

Schellens JH et. al. (1988) Lack of bimodality in nifedipine plasma kinetics in a large population of healthy subjects.

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15.

Molowa DT et. al. (1986) Complete cDNA sequence of a cytochrome P-450 inducible by glucocorticoids in human liver.

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16.

Watkins PB et. al. (1985) Identification of an inducible form of cytochrome P-450 in human liver.

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17.

Kleinbloesem CH et. al. (1984) Variability in nifedipine pharmacokinetics and dynamics: a new oxidation polymorphism in man.

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18.

Elshourbagy NA et. al. (1980) Separation, purification, and characterization of a novel form of hepatic cytochrome P-450 from rats treated with pregnenolone-16 alpha-carbonitrile.

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19.

Shet MS et. al. (1993) Human cytochrome P450 3A4: enzymatic properties of a purified recombinant fusion protein containing NADPH-P450 reductase.

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20.

Chen H et. al. (1996) Increased risk for myelodysplastic syndromes in individuals with glutathione transferase theta 1 (GSTT1) gene defect.

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21.

Lown KS et. al. (1997) Grapefruit juice increases felodipine oral availability in humans by decreasing intestinal CYP3A protein expression.

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22.

Thummel KE et. al. (1998) In vitro and in vivo drug interactions involving human CYP3A.

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23.

Rebbeck TR et. al. (1998) Modification of clinical presentation of prostate tumors by a novel genetic variant in CYP3A4.

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24.

Lehmann JM et. al. (1998) The human orphan nuclear receptor PXR is activated by compounds that regulate CYP3A4 gene expression and cause drug interactions.

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25.

Felix CA et. al. (1998) Association of CYP3A4 genotype with treatment-related leukemia.

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26.

Paris PL et. al. (1999) Association between a CYP3A4 genetic variant and clinical presentation in African-American prostate cancer patients.

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27.

Goodwin B et. al. (1999) The orphan human pregnane X receptor mediates the transcriptional activation of CYP3A4 by rifampicin through a distal enhancer module.

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28.

Walker AH et. al. (1998) Characterization of an allelic variant in the nifedipine-specific element of CYP3A4: ethnic distribution and implications for prostate cancer risk. Mutations in brief no. 191. Online.

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29.

Xie W et. al. (2000) Humanized xenobiotic response in mice expressing nuclear receptor SXR.

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30.

Kittles RA et. al. (2002) CYP3A4-V and prostate cancer in African Americans: causal or confounding association because of population stratification?

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31.

Goodwin B et. al. (2002) Transcriptional regulation of the human CYP3A4 gene by the constitutive androstane receptor.

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32.

Zeigler-Johnson CM et. al. (2002) Ethnic differences in the frequency of prostate cancer susceptibility alleles at SRD5A2 and CYP3A4.

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33.

Tirona RG et. al. (2003) The orphan nuclear receptor HNF4alpha determines PXR- and CAR-mediated xenobiotic induction of CYP3A4.

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34.

Dimaraki EV et. al. (2003) Troglitazone induces CYP3A4 activity leading to falsely abnormal dexamethasone suppression test.

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35.

Masuyama H et. al. (2003) Expression and potential roles of pregnane X receptor in endometrial cancer.

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36.

Markowitz JS et. al. (2003) Effect of St John's wort on drug metabolism by induction of cytochrome P450 3A4 enzyme.

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37.

Loukola A et al. (2004) Comprehensive evaluation of the association between prostate cancer and genotypes/haplotypes in CYP17A1, CYP3A4, and SRD5A2.

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38.

Gupta RP et. al. (2004) CYP3A4 is a human microsomal vitamin D 25-hydroxylase.

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39.

Williams PA et. al. (2004) Crystal structures of human cytochrome P450 3A4 bound to metyrapone and progesterone.

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40.

Hirota T et. al. (2004) Allelic expression imbalance of the human CYP3A4 gene and individual phenotypic status.

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41.

Gupta RP et. al. (2005) CYP3A4 is a vitamin D-24- and 25-hydroxylase: analysis of structure function by site-directed mutagenesis.

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42.

Schirmer M et. al. (2006) Genetic signature consistent with selection against the CYP3A4*1B allele in non-African populations.

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43.

Ekroos M et. al. (2006) Structural basis for ligand promiscuity in cytochrome P450 3A4.

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44.

van Herwaarden AE et. al. (2007) Knockout of cytochrome P450 3A yields new mouse models for understanding xenobiotic metabolism.

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