WO2000005405A3 - Lafora's disease gene - Google Patents

Lafora's disease gene Download PDF

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Publication number
WO2000005405A3
WO2000005405A3 PCT/CA1999/000646 CA9900646W WO0005405A3 WO 2000005405 A3 WO2000005405 A3 WO 2000005405A3 CA 9900646 W CA9900646 W CA 9900646W WO 0005405 A3 WO0005405 A3 WO 0005405A3
Authority
WO
WIPO (PCT)
Prior art keywords
lafora
epm2a
disease
disease gene
protein
Prior art date
Application number
PCT/CA1999/000646
Other languages
French (fr)
Other versions
WO2000005405A2 (en
Inventor
Stephen W Scherer
Berge A Minassian
Antonio Delgado-Escueta
Guy Rouleau
Original Assignee
Stephen W Scherer
Berge A Minassian
Delgado Escueta Antonio
Guy Rouleau
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 Stephen W Scherer, Berge A Minassian, Delgado Escueta Antonio, Guy Rouleau filed Critical Stephen W Scherer
Priority to US09/744,072 priority Critical patent/US6825328B1/en
Priority to AU47655/99A priority patent/AU4765599A/en
Priority to CA2338250A priority patent/CA2338250C/en
Publication of WO2000005405A2 publication Critical patent/WO2000005405A2/en
Publication of WO2000005405A3 publication Critical patent/WO2000005405A3/en
Priority to US10/886,033 priority patent/US7550571B2/en
Priority to US11/979,262 priority patent/US8486624B2/en
Priority to US13/925,443 priority patent/US9334539B2/en
Priority to US15/093,630 priority patent/US20160215347A1/en

Links

Classifications

    • 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
    • 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
    • C12N9/14—Hydrolases (3)
    • C12N9/16—Hydrolases (3) acting on ester bonds (3.1)
    • 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
    • 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

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Pathology (AREA)
  • Medicinal Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Immunology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Peptides Or Proteins (AREA)

Abstract

A novel gene (EPM2A) that is deleted or mutated in people with Lafora's disease is described. The EPM2A gene encodes a protein having an active catalytic site of a protein tyrosine phosphatase. Many different sequence mutations as well as several microdeletions in EPM2A have been found that co-segregate with Lafora's disease.
PCT/CA1999/000646 1998-07-20 1999-07-20 Lafora's disease gene WO2000005405A2 (en)

Priority Applications (7)

Application Number Priority Date Filing Date Title
US09/744,072 US6825328B1 (en) 1998-07-20 1999-07-20 Lafora's disease gene
AU47655/99A AU4765599A (en) 1998-07-20 1999-07-20 Lafora's disease gene
CA2338250A CA2338250C (en) 1998-07-20 1999-07-20 Lafora's disease gene
US10/886,033 US7550571B2 (en) 1998-07-20 2004-07-08 Lafora's disease gene
US11/979,262 US8486624B2 (en) 1998-07-20 2007-10-31 Lafora's disease gene
US13/925,443 US9334539B2 (en) 1998-07-20 2013-06-24 Lafora's disease gene
US15/093,630 US20160215347A1 (en) 1998-07-20 2016-04-07 LaFORA'S DISEASE GENE

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US9349598P 1998-07-20 1998-07-20
US60/093,495 1998-07-20
US13026999P 1999-04-21 1999-04-21
US60/130,269 1999-04-21

Related Child Applications (3)

Application Number Title Priority Date Filing Date
US09744072 A-371-Of-International 1999-07-20
US09/744,072 A-371-Of-International US6825328B1 (en) 1998-07-20 1999-07-20 Lafora's disease gene
US10/886,033 Continuation US7550571B2 (en) 1998-07-20 2004-07-08 Lafora's disease gene

Publications (2)

Publication Number Publication Date
WO2000005405A2 WO2000005405A2 (en) 2000-02-03
WO2000005405A3 true WO2000005405A3 (en) 2000-05-11

Family

ID=26787605

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/CA1999/000646 WO2000005405A2 (en) 1998-07-20 1999-07-20 Lafora's disease gene

Country Status (3)

Country Link
AU (1) AU4765599A (en)
CA (1) CA2338250C (en)
WO (1) WO2000005405A2 (en)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6825328B1 (en) 1998-07-20 2004-11-30 Stephen W. Scherer Lafora's disease gene
JP5576010B2 (en) 2003-08-04 2014-08-20 ザ・ホスピタル・フォー・シック・チルドレン Lafora disease gene

Non-Patent Citations (5)

* Cited by examiner, † Cited by third party
Title
MINASSIAN B ET AL: "Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy", NATURE GENETICS, vol. 20, no. 2, October 1998 (1998-10-01), pages 171 - 74, XP000869599 *
MINASSIAN B ET AL: "Progesss towards the positional cloning of a gene for Lafora's disease", NEUROLOGY, vol. 48, no. 3 suppl 2, 12 April 1997 (1997-04-12) - 19 April 1997 (1997-04-19), pages A428, XP000866505 *
ROES J., MUELLER W., RAJEWSKY K.: "Mouse anti-mouse IgD monoclonal antibodies generated in IgD-deficient", JOURNAL OF IMMUNOLOGICAL METHODS., ELSEVIER SCIENCE PUBLISHERS B.V.,AMSTERDAM., NL, vol. 183., no. 02., 28 June 1995 (1995-06-28), NL, pages 231 - 237., XP002127924, ISSN: 0022-1759, DOI: 10.1016/0022-1759(95)00059-J *
SAINZ J ET AL: "Lofora's progressive myoclonus epilepsy : narrowing the chromosome 6Q24 locus by recombinations and homozygosities", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 61, no. 5, 1997, pages 1205 - 09, XP000866531 *
SERRATOSA J ET AL: "A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)", HUMAN MOLECULAR GENETICS, vol. 8, no. 2, February 1999 (1999-02-01), pages 345 - 52, XP000867126 *

Also Published As

Publication number Publication date
CA2338250C (en) 2012-02-21
AU4765599A (en) 2000-02-14
WO2000005405A2 (en) 2000-02-03
CA2338250A1 (en) 2000-02-03

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