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WO2007047998A3 - Mutations and polymorphisms of hdac2 - Google Patents

Mutations and polymorphisms of hdac2 Download PDF

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Publication number
WO2007047998A3
WO2007047998A3 PCT/US2006/041168 US2006041168W WO2007047998A3 WO 2007047998 A3 WO2007047998 A3 WO 2007047998A3 US 2006041168 W US2006041168 W US 2006041168W WO 2007047998 A3 WO2007047998 A3 WO 2007047998A3
Authority
WO
WIPO (PCT)
Prior art keywords
hdac2
mutations
mutant
polymorphisms
various aspects
Prior art date
Application number
PCT/US2006/041168
Other languages
French (fr)
Other versions
WO2007047998A2 (en
Inventor
Kenneth Wayne Culver
Jian Zhu
Stan Lilleberg
Original Assignee
Novartis Ag
Novartis Pharma Gmbh
Kenneth Wayne Culver
Jian Zhu
Stan Lilleberg
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 Novartis Ag, Novartis Pharma Gmbh, Kenneth Wayne Culver, Jian Zhu, Stan Lilleberg filed Critical Novartis Ag
Publication of WO2007047998A2 publication Critical patent/WO2007047998A2/en
Publication of WO2007047998A3 publication Critical patent/WO2007047998A3/en

Links

Classifications

    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/16—Amides, e.g. hydroxamic acids
    • A61K31/165—Amides, e.g. hydroxamic acids having aromatic rings, e.g. colchicine, atenolol, progabide
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/185—Acids; Anhydrides, halides or salts thereof, e.g. sulfur acids, imidic, hydrazonic or hydroximic acids
    • A61K31/19—Carboxylic acids, e.g. valproic acid
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P35/00—Antineoplastic agents
    • 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
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • 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
    • C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
    • 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
    • C12Q2600/172—Haplotypes

Landscapes

  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Medicinal Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Pathology (AREA)
  • Epidemiology (AREA)
  • Immunology (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Molecular Biology (AREA)
  • Oncology (AREA)
  • General Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • Biochemistry (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Microbiology (AREA)
  • Hospice & Palliative Care (AREA)
  • Biotechnology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

Abstract

This invention relates generally to the analytical testing of tissue samples in vitro, and more particularly to aspects of genetic polymorphisms and mutations of the HDAC2 gene. The invention provides new HDAC2 mutations and SNPs, useful in the diagnosis and treatment of subjects in need thereof. Accordingly, the various aspects of the present invention relate to polynucleotides encoding the HDAC2 mutations of the invention, expression vectors encoding the HDAC2 mutant polypeptides of the invention and organisms that express the HDAC2 mutant and polymorphic polynucleotides and/or HDAC2 mutant/polymorphic polypeptides of the invention. The various aspects of the present invention further relate to diagnostic/theranostic methods and kits that use the HDAC2 mutations and polymorphisms of the invention to identify individuals predisposed to disease or to classify individuals with regard to drug responsiveness, side effects, or optimal drug dose.
PCT/US2006/041168 2005-10-21 2006-10-19 Mutations and polymorphisms of hdac2 WO2007047998A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US72882205P 2005-10-21 2005-10-21
US60/728,822 2005-10-21

Publications (2)

Publication Number Publication Date
WO2007047998A2 WO2007047998A2 (en) 2007-04-26
WO2007047998A3 true WO2007047998A3 (en) 2008-03-13

Family

ID=37890299

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2006/041168 WO2007047998A2 (en) 2005-10-21 2006-10-19 Mutations and polymorphisms of hdac2

Country Status (1)

Country Link
WO (1) WO2007047998A2 (en)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2019014418A1 (en) * 2017-07-13 2019-01-17 Massachusetts Institute Of Technology Targeting the hdac2-sp3 complex to enhance synaptic function
AU2018331278A1 (en) 2017-09-18 2020-03-26 Massachusetts Institute Of Technology Cyclin-dependent kinase 5 (CDK5) inhibitory peptides

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2002022577A2 (en) * 2000-09-01 2002-03-21 Novartis Ag Hydroxamate derivatives useful as deacetylase inhibitors

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2002022577A2 (en) * 2000-09-01 2002-03-21 Novartis Ag Hydroxamate derivatives useful as deacetylase inhibitors

Non-Patent Citations (8)

* Cited by examiner, † Cited by third party
Title
ACHARYA MILIN R ET AL: "Rational development of histone deacetylase inhibitors as anticancer agents: A review", MOLECULAR PHARMACOLOGY, BALTIMORE, MD, US, vol. 68, no. 4, 2005, pages 917 - 932, XP002423309, ISSN: 0026-895X *
GEORGE ET AL: "COMBINATION OF THE HISTONE DEACETYLASE INHIBITOR LBH589 AND THE HSP90 INHIBITOR 17-AAG IS HIGHLY ACTIVE AGAINST HUMAN CML-BC CELLS AND AML CELLS WITH ACTIVATING MUTATION OF FLT-3", BLOOD, W.B. SAUNDERS, PHILADELPHIA, VA, US, vol. 105, no. 4, 28 October 2004 (2004-10-28), pages 1768 - 1776, XP008075090, ISSN: 0006-4971 *
MAI ANTONELLO ET AL: "HISTONE DEACETYLATION IN EPIGENETICS: AN ATTRACTIVE TARGET FOR ANTICANCER THERAPY", MEDICINAL RESEARCH REVIEWS, NEW YORK, NY, US, vol. 25, no. 3, May 2005 (2005-05-01), pages 261 - 309, XP009075075, ISSN: 0198-6325 *
MONNERET C: "Histone deacetylase inhibitors", EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY, EDITIONS SCIENTIFIQUE ELSEVIER, PARIS, FR, vol. 40, no. 1, January 2005 (2005-01-01), pages 1 - 13, XP004708959, ISSN: 0223-5234 *
PARK J M ET AL: "no association between polymorphisms in the histone deacetylase genes and the risk of lung cancer", CANCER EPIDEMIOLOGY, BIOMARKERS AND PREVENTION, AMERICAN ASSOCIATION FOR CANCER RESEARCH,, US, vol. 14, no. 7, July 2005 (2005-07-01), pages 1841 - 1843, XP002424811, ISSN: 1055-9965 *
REMISZEWSKI S W ET AL: "N-Hydroxy-3-phenyl-2-propenamides as novel inhibitors of human histone deacetylase with in vivo antitumor activity: Discovery of (2E)-N-hydroxy-3-[4-[[2-hydroxyethyl)[2-(1H-indol-3-yl)ethyl]amino]me thyl]phenyl]-2-propenamide (NVP-LAQ824)", JOURNAL OF MEDICINAL CHEMISTRY, AMERICAN CHEMICAL SOCIETY. WASHINGTON, US, vol. 46, 2003, pages 4609 - 4624, XP002414496, ISSN: 0022-2623 *
ROPERO S ET AL: "A truncating mutation of HDAC2 in human cancers confers resistance to histone deacetylase inhibition", NATURE GENETICS, NEW YORK, NY, US, vol. 38, no. 5, 16 April 2006 (2006-04-16), pages 566 - 569, XP002401873, ISSN: 1061-4036 *
WADE P A: "Transcriptional control at regulatory checkpoints by histone deacetylases: molecular connections between cancer and chromatin.", HUMAN MOLECULAR GENETICS APR 2001, vol. 10, no. 7, April 2001 (2001-04-01), pages 693 - 698, XP002463805, ISSN: 0964-6906 *

Also Published As

Publication number Publication date
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