CA2108927A1 - Wilson disease gene - Google Patents

Wilson disease gene

Info

Publication number
CA2108927A1
CA2108927A1 CA002108927A CA2108927A CA2108927A1 CA 2108927 A1 CA2108927 A1 CA 2108927A1 CA 002108927 A CA002108927 A CA 002108927A CA 2108927 A CA2108927 A CA 2108927A CA 2108927 A1 CA2108927 A1 CA 2108927A1
Authority
CA
Canada
Prior art keywords
gene
wilson disease
copper
wnd
mnk
Prior art date
Legal status (The legal status 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 status listed.)
Granted
Application number
CA002108927A
Other languages
French (fr)
Other versions
CA2108927C (en
Inventor
Diane W. Cox
Peter Bull
Gordon Thomas
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Individual
Original Assignee
HSC Research and Development LP
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
Priority claimed from CA 2106602 external-priority patent/CA2106602A1/en
Application filed by HSC Research and Development LP filed Critical HSC Research and Development LP
Priority to CA002108927A priority Critical patent/CA2108927C/en
Priority to PCT/CA1994/000519 priority patent/WO1995008641A1/en
Publication of CA2108927A1 publication Critical patent/CA2108927A1/en
Application granted granted Critical
Publication of CA2108927C publication Critical patent/CA2108927C/en
Anticipated expiration legal-status Critical
Expired - Fee Related legal-status Critical Current

Links

Classifications

    • 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)
    • 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
    • C12Q2600/156—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
    • C12Q2600/172—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)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

Abstract

Wilson disease (hepatolenticular degeneration) is an autosomal recessive disorder of copper transport, resulting in copper accumulation and toxicity to the liver and brain. The gene (locus WND) has been mapped to chromosome 13 band q14.3. On three overlapping yeast artificial chromosomes (YACs) from this region, a sequence similar to the proposed copper binding motifs of the putative ATPase (MNK) defective in Menkes disease was identified. It was shown that this sequence forms part of a P-type ATPase gene (Wc1) that is very similar to MNK, with at least six putative metal binding domains homologous to those found in prokaryotic heavy metal transporters. This gene lies within a 300 kb region that has been identified as a likely location for WND. The gene is expressed in the liver and kidney and is a candidate for Wilson disease.
CA002108927A 1993-09-21 1993-10-21 Wilson disease gene Expired - Fee Related CA2108927C (en)

Priority Applications (2)

Application Number Priority Date Filing Date Title
CA002108927A CA2108927C (en) 1993-09-21 1993-10-21 Wilson disease gene
PCT/CA1994/000519 WO1995008641A1 (en) 1993-09-21 1994-09-21 Wilson disease gene

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
CA2,106,602 1993-09-21
CA 2106602 CA2106602A1 (en) 1993-09-21 1993-09-21 Wilson disease gene
CA002108927A CA2108927C (en) 1993-09-21 1993-10-21 Wilson disease gene

Publications (2)

Publication Number Publication Date
CA2108927A1 true CA2108927A1 (en) 1995-04-22
CA2108927C CA2108927C (en) 2008-09-02

Family

ID=25676655

Family Applications (1)

Application Number Title Priority Date Filing Date
CA002108927A Expired - Fee Related CA2108927C (en) 1993-09-21 1993-10-21 Wilson disease gene

Country Status (2)

Country Link
CA (1) CA2108927C (en)
WO (1) WO1995008641A1 (en)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2003038125A1 (en) * 2001-10-18 2003-05-08 Bio Gene Technologies, Inc. Modified pcr-sscp method of mutation screening
US9827314B2 (en) 2003-12-08 2017-11-28 Mars, Incorporated Edible compositions which are adapted for use by a companion animal
EP2342353A1 (en) 2008-10-03 2011-07-13 Mars, Incorporated Genetic test for liver copper accumulation in dogs and low copper pet diet
KR101076612B1 (en) 2009-01-14 2011-10-26 재단법인 아산사회복지재단 Composition for Diagnosis of Wilson's Disease
GB201120989D0 (en) 2011-12-06 2012-01-18 Mars Inc Genetic test
GB201522416D0 (en) 2015-12-18 2016-02-03 Ucl Business Plc Wilson's disease gene therapy
EP3752614A4 (en) 2018-02-14 2021-11-10 Deep Genomics Incorporated Oligonucleotide therapy for wilson disease
WO2019191270A1 (en) * 2018-03-27 2019-10-03 The Board Of Trustees Of The University Of Illinois Restoration of transmembrane copper transport

Also Published As

Publication number Publication date
CA2108927C (en) 2008-09-02
WO1995008641A1 (en) 1995-03-30

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Legal Events

Date Code Title Description
EEER Examination request
MKLA Lapsed