WO2001036657A3 - Altered type ix collagen gene sequences associated with intervertebral disc disease - Google Patents

Altered type ix collagen gene sequences associated with intervertebral disc disease Download PDF

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Publication number
WO2001036657A3
WO2001036657A3 PCT/US2000/031527 US0031527W WO0136657A3 WO 2001036657 A3 WO2001036657 A3 WO 2001036657A3 US 0031527 W US0031527 W US 0031527W WO 0136657 A3 WO0136657 A3 WO 0136657A3
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WO
WIPO (PCT)
Prior art keywords
col9a2
col9a3
intervertebral disc
gene sequences
methods
Prior art date
Application number
PCT/US2000/031527
Other languages
French (fr)
Other versions
WO2001036657A2 (en
Inventor
Darwin J Prockop
Leena Ala-Kokko
Original Assignee
Philadelphia Health & Educatio
Darwin J Prockop
Ala Kokko Leena
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 Philadelphia Health & Educatio, Darwin J Prockop, Ala Kokko Leena filed Critical Philadelphia Health & Educatio
Priority to AU17702/01A priority Critical patent/AU1770201A/en
Publication of WO2001036657A2 publication Critical patent/WO2001036657A2/en
Publication of WO2001036657A3 publication Critical patent/WO2001036657A3/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
    • C07K14/78—Connective tissue peptides, e.g. collagen, elastin, laminin, fibronectin, vitronectin or cold insoluble globulin [CIG]
    • 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
    • C12Q2600/158—Expression markers

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Biochemistry (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Toxicology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Biotechnology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Medicinal Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

Abstract

The invention relates to compositions, kits, and methods for detecting polymorphic alleles of the human genes encoding the α2 and α3 chains of type IX collagen (i.e. the COL9A2 and COL9A3 genes). The invention also includes compositions, kits, and methods for assessing whether a subject is afflicted with, or is predisposed to become afflicted with a disorder associated with the presence in the subject of an aberrant COL9A2 and COL9A3 gene, such as a COL9A2 or COL9A3 allele that encodes a collagen protein chain having a tryptophan residue substituted in place of a residue that is normally arginine or glutamine. The invention also includes methods of treating subjects afflicted with such disorders.
PCT/US2000/031527 1999-11-17 2000-11-17 Altered type ix collagen gene sequences associated with intervertebral disc disease WO2001036657A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU17702/01A AU1770201A (en) 1999-11-17 2000-11-17 Altered type ix collagen gene sequences associated with intervertebral disc disease

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US16605499P 1999-11-17 1999-11-17
US60/166,054 1999-11-17

Publications (2)

Publication Number Publication Date
WO2001036657A2 WO2001036657A2 (en) 2001-05-25
WO2001036657A3 true WO2001036657A3 (en) 2001-10-04

Family

ID=22601621

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2000/031527 WO2001036657A2 (en) 1999-11-17 2000-11-17 Altered type ix collagen gene sequences associated with intervertebral disc disease

Country Status (2)

Country Link
AU (1) AU1770201A (en)
WO (1) WO2001036657A2 (en)

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1997017988A1 (en) * 1995-11-13 1997-05-22 Fibrogen, Inc. Type ix collagen and chimeras
US5773248A (en) * 1995-11-13 1998-06-30 Uab Research Foundation Nucleic acid encoding a human α3(IX) collagen protein and method of producing the protein recombinantly

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1997017988A1 (en) * 1995-11-13 1997-05-22 Fibrogen, Inc. Type ix collagen and chimeras
US5773248A (en) * 1995-11-13 1998-06-30 Uab Research Foundation Nucleic acid encoding a human α3(IX) collagen protein and method of producing the protein recombinantly

Non-Patent Citations (5)

* Cited by examiner, † Cited by third party
Title
BOENNEMANN ET AL.: "A mutation in the alpha 3 chain of the type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy", PROC. NATL. ACAD. SCI. USA, vol. 97, no. 3, February 2000 (2000-02-01), pages 1212 - 1217, XP002940263 *
HOLDEN ET AL.: "Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia", AM. J. HUM. GENET., no. 65, July 1999 (1999-07-01), pages 31 - 38, XP002940262 *
KUIVANIEMI ET AL.: "Mutations in collagen genes: causes of rare and some common diseases in humans", THE FASEB JOURNAL, vol. 5, 1991, pages 2052 - 2060, XP002940265 *
PAASSILTA ET AL.: "Complete sequence of the 23-kilobase human COL9A3 gene", J. BIOL. CHEM., vol. 274, no. 32, August 1999 (1999-08-01), pages 22469 - 22475, XP002940266 *
SPAYDE ET AL.: "Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia", MATRIX BIOLOGY, vol. 19, no. 2, May 2000 (2000-05-01), pages 121 - 128, XP002940264 *

Also Published As

Publication number Publication date
WO2001036657A2 (en) 2001-05-25
AU1770201A (en) 2001-05-30

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