WO2008096009A3 - Polymorphism in the slc30a8 gene - Google Patents

Polymorphism in the slc30a8 gene Download PDF

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Publication number
WO2008096009A3
WO2008096009A3 PCT/EP2008/051577 EP2008051577W WO2008096009A3 WO 2008096009 A3 WO2008096009 A3 WO 2008096009A3 EP 2008051577 W EP2008051577 W EP 2008051577W WO 2008096009 A3 WO2008096009 A3 WO 2008096009A3
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WO
WIPO (PCT)
Prior art keywords
diabetes
slc30a8 gene
polymorphism
slc30a8
gene
Prior art date
Application number
PCT/EP2008/051577
Other languages
French (fr)
Other versions
WO2008096009A2 (en
Inventor
Michel Seve
Fabrice Chimienti
Boysson Yann De
Pierre-Marie Girod-Roux
Philippe Barth
Original Assignee
Mellitech
Michel Seve
Fabrice Chimienti
Boysson Yann De
Pierre-Marie Girod-Roux
Philippe Barth
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 Mellitech, Michel Seve, Fabrice Chimienti, Boysson Yann De, Pierre-Marie Girod-Roux, Philippe Barth filed Critical Mellitech
Publication of WO2008096009A2 publication Critical patent/WO2008096009A2/en
Publication of WO2008096009A3 publication Critical patent/WO2008096009A3/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
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • C07K14/4701—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals not used
    • C07K14/4713—Autoimmune diseases, e.g. Insulin-dependent diabetes mellitus, multiple sclerosis, rheumathoid arthritis, systemic lupus erythematosus; Autoantigens
    • 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
    • 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
    • C12Q2600/136—Screening for pharmacological compounds
    • 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

Landscapes

  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Physics & Mathematics (AREA)
  • Hematology (AREA)
  • Biotechnology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Diabetes (AREA)
  • Microbiology (AREA)
  • Rehabilitation Therapy (AREA)
  • Rheumatology (AREA)
  • Toxicology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Medicinal Chemistry (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)

Abstract

The present invention relates to a single nucleotide polymorphisme (SNP) identified in the slc30a8 gene, leading to a specific amino acid sequence of the coded protein, associated with susceptibility to diabetes. The invention is also relative to a transgenic mammalian model comprising a protein encoded bythe slc30a8 gene, having a specific polypeptidic sequence, which can be useful for elucidating the onset mechanism of diabetes, and for the screening of therapeutically active drugs for the treatment of diabetes, especially type II diabetes, and metabolic disorders, including syndrome X and obesity. The mammalian animal considered can be a mouse (preferably), a rat, a dog, a macaque, a chimp or a pig.
PCT/EP2008/051577 2007-02-09 2008-02-08 Polymorphism in the slc30a8 gene WO2008096009A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US90043307P 2007-02-09 2007-02-09
US60/900,433 2007-02-09

Publications (2)

Publication Number Publication Date
WO2008096009A2 WO2008096009A2 (en) 2008-08-14
WO2008096009A3 true WO2008096009A3 (en) 2009-03-19

Family

ID=39615590

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/EP2008/051577 WO2008096009A2 (en) 2007-02-09 2008-02-08 Polymorphism in the slc30a8 gene

Country Status (1)

Country Link
WO (1) WO2008096009A2 (en)

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2014089021A1 (en) * 2012-12-03 2014-06-12 The Johns Hopkins University Humanized transgenic single nucleotide polymorphism animal systems
WO2016100857A1 (en) * 2014-12-19 2016-06-23 Regeneron Pharmaceuticals, Inc. Stem cells for modeling type 2 diabetes
CA3076371C (en) * 2017-11-10 2022-11-22 Regeneron Pharmaceuticals, Inc. Non-human animals comprising slc30a8 mutation and methods of use
CN110117649A (en) * 2019-05-21 2019-08-13 凯杰（苏州）转化医学研究有限公司 A kind of Primer composition and its application
KR102194881B1 (en) * 2019-10-11 2020-12-24 대한민국 SNP marker for prediction of dog's obesity and prediction method using the same

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2002024733A2 (en) * 2000-09-15 2002-03-28 Curagen Corporation Human polynucleotides and polypeptides encoded thereby
FR2847263A1 (en) * 2002-11-18 2004-05-21 Commissariat Energie Atomique New nucleic acid encoding a zinc transporter, useful for diagnosis and treatment of diabetes, also derived proteins, antibodies, transformed cells and organisms, and method for selected islet beta cells

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2002024733A2 (en) * 2000-09-15 2002-03-28 Curagen Corporation Human polynucleotides and polypeptides encoded thereby
FR2847263A1 (en) * 2002-11-18 2004-05-21 Commissariat Energie Atomique New nucleic acid encoding a zinc transporter, useful for diagnosis and treatment of diabetes, also derived proteins, antibodies, transformed cells and organisms, and method for selected islet beta cells

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
CHIMIENTI F ET AL: "ZINC HOMEOSTASIS-REGULATING PROTEINS: NEW DRUG TARGETS FOR TRIGGERING CELL FATE", CURRENT DRUG TARGETS, BENTHAM SCIENCE PUBLISHER, US, vol. 4, no. 4, 1 January 2003 (2003-01-01), pages 323 - 338, XP008074718, ISSN: 1389-4501 *
CHIMIENTI FABRICE ET AL: "IN VIVO EXPRESSION AND FUNCTIONAL CHARACTERIZATION OF THE ZINC TRANSPORTER ZNT8 IN GLUCOSE-INDUCED INSULIN SECRETION", JOURNAL OF CELL SCIENCE, CAMBRIDGE UNIVERSITY PRESS, LONDON, GB, vol. 119, no. 20, 15 October 2006 (2006-10-15), pages 4199 - 4206, XP008074719, ISSN: 0021-9533 *
CHIMIENTI, FABRICE ET AL: "Identification and cloning of a .beta.-cell-specific zinc transporter, ZnT-8, localized into insulin secretory granules", DIABETES , 53(9), 2330-2337 CODEN: DIAEAZ; ISSN: 0012-1797, 2004, XP002348398 *
SLADEK ROBERT ET AL: "A genome-wide association study identifies novel risk loci for type 2 diabetes", NATURE, NATURE PUBLISHING GROUP, LONDON, UK, vol. 445, no. 7130, 22 February 2007 (2007-02-22), pages 881 - 885, XP002465137, ISSN: 0028-0836 *

Also Published As

Publication number Publication date
WO2008096009A2 (en) 2008-08-14

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