WO2001020025A3 - Polymorphisms in the human cyp3a4 and cyp3a7 genes and their use in diagnostic and therapeutic applications - Google Patents

Polymorphisms in the human cyp3a4 and cyp3a7 genes and their use in diagnostic and therapeutic applications Download PDF

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Publication number
WO2001020025A3
WO2001020025A3 PCT/EP2000/008570 EP0008570W WO0120025A3 WO 2001020025 A3 WO2001020025 A3 WO 2001020025A3 EP 0008570 W EP0008570 W EP 0008570W WO 0120025 A3 WO0120025 A3 WO 0120025A3
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WIPO (PCT)
Prior art keywords
cyp3a7
cyp3a4
polynucleotides
vectors
proteins
Prior art date
Application number
PCT/EP2000/008570
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French (fr)
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WO2001020025A2 (en
Inventor
Leszek Wojnowski
Regina Eiselt
Original Assignee
Epidauros Biotechnologie Ag
Leszek Wojnowski
Regina Eiselt
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Epidauros Biotechnologie Ag, Leszek Wojnowski, Regina Eiselt filed Critical Epidauros Biotechnologie Ag
Priority to AU75133/00A priority Critical patent/AU7513300A/en
Priority to EP00964092A priority patent/EP1210463A2/en
Priority to US10/070,587 priority patent/US7655771B1/en
Priority to JP2001523796A priority patent/JP2003509063A/en
Priority to CA002379541A priority patent/CA2379541A1/en
Publication of WO2001020025A2 publication Critical patent/WO2001020025A2/en
Publication of WO2001020025A3 publication Critical patent/WO2001020025A3/en
Priority to NO20021146A priority patent/NO20021146L/en

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    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/705—Receptors; Cell surface antigens; Cell surface determinants
    • C07K14/70567—Nuclear receptors, e.g. retinoic acid receptor [RAR], RXR, nuclear orphan receptors
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P35/00—Antineoplastic agents
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P43/00—Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/0004—Oxidoreductases (1.)
    • C12N9/0071—Oxidoreductases (1.) acting on paired donors with incorporation of molecular oxygen (1.14)
    • C12N9/0077—Oxidoreductases (1.) acting on paired donors with incorporation of molecular oxygen (1.14) with a reduced iron-sulfur protein as one donor (1.14.15)
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/05—Animals comprising random inserted nucleic acids (transgenic)
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/158—Expression markers

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  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Wood Science & Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Molecular Biology (AREA)
  • Medicinal Chemistry (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Immunology (AREA)
  • Analytical Chemistry (AREA)
  • Public Health (AREA)
  • Toxicology (AREA)
  • Veterinary Medicine (AREA)
  • Pathology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Biomedical Technology (AREA)
  • High Energy & Nuclear Physics (AREA)
  • Cell Biology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Peptides Or Proteins (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Abstract

Described are general means and methods of diagnosing and treating the phenotypic spectrum as well as the overlapping clinical characteristics with several forms of inherited abnormal expression and/or function of the CYP3A4 and CYP3A7 genes. In particular, polynucleotides of molecular variant CYP3A4 and CYP3A7 genes which, for example, are associated with insufficient metabolization and/or sensitivety of drugs, and vectors comprising such polynucleotides are provided. Furthermore, host cells comprising such polynucleotides or vectors and their use for the production of variant CYP3A4 and CYP3A7 proteins are described. In addition, variant CYP3A4 and CYP3A7 proteins and antibodies specifically recognizing such proteins as well as transgenic non-human animals comprising the above-described polynucleotides or vectors are provided. Described are also methods for identifying and obtaining inhibitors for therapy of disorders related to the malfunction of the CYP3A4 and CYP3A7 genes as well as methods of diagnosing the status of such disorders. Pharmaceutical and diagnostic compositions comprising the above-described polynucleotides, vectors, proteins, antibodies and inhibitors by the above-described method are provided. Said compositions are particularly useful for diagnosing and treating various diseases with drugs that are substrates, inhibitors or modulators of the CYP3A4 or CYP3A7 gene product.
PCT/EP2000/008570 1999-09-10 2000-09-01 Polymorphisms in the human cyp3a4 and cyp3a7 genes and their use in diagnostic and therapeutic applications WO2001020025A2 (en)

Priority Applications (6)

Application Number Priority Date Filing Date Title
AU75133/00A AU7513300A (en) 1999-09-10 2000-09-01 Polymorphisms in the human cyp3a4 and cyp3a7 genes and their use in diagnostic and therapeutic applications
EP00964092A EP1210463A2 (en) 1999-09-10 2000-09-01 Polymorphisms in the human cyp3a4 and cyp3a7 genes and their use in diagnostic and therapeutic applications
US10/070,587 US7655771B1 (en) 1999-09-10 2000-09-01 Polymorphisms in the human cyp3a4 and cyp3a7 genes and their use in diagnostic and therapeutic applications
JP2001523796A JP2003509063A (en) 1999-09-10 2000-09-01 Polymorphisms in the human CYP3A4 and CYP3A7 genes and their use in diagnostic and therapeutic applications
CA002379541A CA2379541A1 (en) 1999-09-10 2000-09-01 Polymorphisms in the human cyp3a4 and cyp3a7 genes and their use in diagnostic and therapeutic applications
NO20021146A NO20021146L (en) 1999-09-10 2002-03-07 Polymorphisms of the human CYP3A7 and CYP3A7 genes and their use in diagnostics and therapeutic applications

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP99118120A EP1088900A1 (en) 1999-09-10 1999-09-10 Polymorphisms in the human CYP3A4, CYP3A7 and hPXR genes and their use in diagnostic and therapeutic applications
EP99118120.7 1999-09-10

Publications (2)

Publication Number Publication Date
WO2001020025A2 WO2001020025A2 (en) 2001-03-22
WO2001020025A3 true WO2001020025A3 (en) 2001-10-11

Family

ID=8238983

Family Applications (2)

Application Number Title Priority Date Filing Date
PCT/EP2000/008570 WO2001020025A2 (en) 1999-09-10 2000-09-01 Polymorphisms in the human cyp3a4 and cyp3a7 genes and their use in diagnostic and therapeutic applications
PCT/EP2000/008827 WO2001020026A2 (en) 1999-09-10 2000-09-08 POLYMORPHISMS IN THE HUMAN hPXR GENE AND THEIR USE IN DIAGNOSTIC AND THERAPEUTIC APPLICATIONS

Family Applications After (1)

Application Number Title Priority Date Filing Date
PCT/EP2000/008827 WO2001020026A2 (en) 1999-09-10 2000-09-08 POLYMORPHISMS IN THE HUMAN hPXR GENE AND THEIR USE IN DIAGNOSTIC AND THERAPEUTIC APPLICATIONS

Country Status (9)

Country Link
US (2) US7655771B1 (en)
EP (3) EP1088900A1 (en)
JP (2) JP2003509063A (en)
AT (1) ATE378423T1 (en)
AU (2) AU7513300A (en)
CA (2) CA2379541A1 (en)
DE (1) DE60037126T2 (en)
NO (2) NO20021147L (en)
WO (2) WO2001020025A2 (en)

Families Citing this family (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AUPP362898A0 (en) 1998-05-21 1998-06-11 University Of Sydney, The Xenobiotic induction of gene expression
AUPR116100A0 (en) 2000-11-01 2000-11-23 University Of Sydney, The P450 gene regulation
AU2002218602A1 (en) * 2000-11-28 2002-06-11 Csaba Finta New cytochrome p450 proteins and the corresponding dna sequences
EP1390744B1 (en) 2001-04-12 2012-09-26 Xenogen Corporation Isolation and identification of mouse and human transcription control elements associated with cytochrome expression
JP2003304896A (en) 2002-04-15 2003-10-28 Yasushi Yamazoe Method of assaying human cyp3a induction potency
US20060183168A1 (en) * 2002-10-28 2006-08-17 Geroni Maria C Method for optimizing therapeutic efficacy of nemorubicin
US7759541B2 (en) 2004-12-13 2010-07-20 Iti Life Sciences Transgenic animals for assessing drug metabolism and toxicity
JP2007119359A (en) * 2005-10-25 2007-05-17 Fujifilm Corp Cancer inhibitor
US9539593B2 (en) * 2006-10-23 2017-01-10 Micell Technologies, Inc. Holder for electrically charging a substrate during coating
US9441275B2 (en) 2009-03-26 2016-09-13 Ohio State Innovation Foundation Polymorphism in CYP3A4 gene affecting drug metabolizing and uses thereof
US9938576B1 (en) 2012-09-21 2018-04-10 Ohio State Innovation Foundation Materials and methods for determining metabolizer status in humans

Citations (4)

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WO1991010745A1 (en) * 1990-01-18 1991-07-25 Imperial Cancer Research Technology Limited Genetic assay for cytochrome p450
EP0759476A1 (en) * 1994-05-06 1997-02-26 Otsuka Pharmaceutical Co., Ltd. Method of detecting human cytochrome p4502d6 gene polymorphism
WO1999013106A1 (en) * 1997-09-10 1999-03-18 Axys Pharmaceuticals, Inc. Genotyping of human cyp3a4
WO2000024926A1 (en) * 1998-10-23 2000-05-04 Signalgene Detection of cyp1a1, cyp3a4, cyp2d6 and nat2 variants and therapeutic uses thereof

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FR2733251B1 (en) * 1995-04-18 1997-07-04 Inst Nat Sante Rech Med Screening for juvenile glaucoma
US6025131A (en) * 1996-10-23 2000-02-15 E. I. Du Pont De Namours And Company Facile method for identifying regulated promoters
WO1998020165A2 (en) * 1996-11-06 1998-05-14 Whitehead Institute For Biomedical Research Biallelic markers
EP1024193A4 (en) * 1997-07-22 2004-12-15 Chugai Pharmaceutical Co Ltd Method for gene screening with the use of nuclear receptors
JP2002535241A (en) * 1998-03-27 2002-10-22 グラクソ グループ リミテッド Orphan nuclear receptor
US6821724B1 (en) * 1998-09-17 2004-11-23 Affymetrix, Inc. Methods of genetic analysis using nucleic acid arrays

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1991010745A1 (en) * 1990-01-18 1991-07-25 Imperial Cancer Research Technology Limited Genetic assay for cytochrome p450
EP0759476A1 (en) * 1994-05-06 1997-02-26 Otsuka Pharmaceutical Co., Ltd. Method of detecting human cytochrome p4502d6 gene polymorphism
WO1999013106A1 (en) * 1997-09-10 1999-03-18 Axys Pharmaceuticals, Inc. Genotyping of human cyp3a4
WO2000024926A1 (en) * 1998-10-23 2000-05-04 Signalgene Detection of cyp1a1, cyp3a4, cyp2d6 and nat2 variants and therapeutic uses thereof

Non-Patent Citations (5)

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Title
BEAUNE P.H. ET AL.,: "Isolation and sequence determination of a cDNA clone related to human cytochrom P-450 nifedipine oxidase", PROCEEDINS OF THE NATIONAL ACADEMY OF SCIENCES, USA, vol. 83, 1986, pages 8064 - 8068, XP000907192 *
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NCBI protein and nucleotide databasases. 15-11-2000 AC= AAG32290. CYTOCHROME P450 POLYPEPTIDE 4; CYP3A4. Homo sapiens (Human). Gellner et al., "Genomic organization of the human CYP3A locus: identification of a new, inducible CYP3A gene expressed in the liver, testes and prostate." (unpublished) *
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", CLINICAL PHARMACOLOGY & THERAPEUTICS, vol. 67, January 2000 (2000-01-01), pages 48-56, XP000910497 *
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Publication number Publication date
JP2003509064A (en) 2003-03-11
US7122652B1 (en) 2006-10-17
US7655771B1 (en) 2010-02-02
EP1210462B1 (en) 2007-11-14
NO20021147D0 (en) 2002-03-07
NO20021146D0 (en) 2002-03-07
WO2001020026A3 (en) 2001-12-13
WO2001020025A2 (en) 2001-03-22
ATE378423T1 (en) 2007-11-15
WO2001020026A2 (en) 2001-03-22
AU7513300A (en) 2001-04-17
EP1088900A1 (en) 2001-04-04
CA2379541A1 (en) 2001-03-22
JP2003509063A (en) 2003-03-11
AU7001800A (en) 2001-04-17
NO20021147L (en) 2002-05-03
DE60037126D1 (en) 2007-12-27
EP1210462A2 (en) 2002-06-05
NO20021146L (en) 2002-04-15
EP1210463A2 (en) 2002-06-05
DE60037126T2 (en) 2008-09-18
CA2381066A1 (en) 2001-03-22

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