WO1999036533A3 - Nucleic acid corresponding to mutation associated with cholestasis syndromes - Google Patents

Nucleic acid corresponding to mutation associated with cholestasis syndromes Download PDF

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Publication number
WO1999036533A3
WO1999036533A3 PCT/NL1999/000033 NL9900033W WO9936533A3 WO 1999036533 A3 WO1999036533 A3 WO 1999036533A3 NL 9900033 W NL9900033 W NL 9900033W WO 9936533 A3 WO9936533 A3 WO 9936533A3
Authority
WO
WIPO (PCT)
Prior art keywords
nucleic acid
cholestasis
bile
intrahepatic cholestasis
syndromes
Prior art date
Application number
PCT/NL1999/000033
Other languages
French (fr)
Other versions
WO1999036533A2 (en
Inventor
Laura N Bull
Nelson B Freimer
Roderick H J Houwen
Alexander S Knisely
Ludmila Pawlikowska
Eijk Michiel J T Van
Original Assignee
Academisch Ziekenhuis Utrecht
Laura N Bull
Nelson B Freimer
Roderick H J Houwen
Alexander S Knisely
Ludmila Pawlikowska
Eijk Michiel J T Van
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 Academisch Ziekenhuis Utrecht, Laura N Bull, Nelson B Freimer, Roderick H J Houwen, Alexander S Knisely, Ludmila Pawlikowska, Eijk Michiel J T Van filed Critical Academisch Ziekenhuis Utrecht
Priority to AU19863/99A priority Critical patent/AU1986399A/en
Priority to EP99900717A priority patent/EP1047786A2/en
Publication of WO1999036533A2 publication Critical patent/WO1999036533A2/en
Publication of WO1999036533A3 publication Critical patent/WO1999036533A3/en

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Classifications

    • 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
    • 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)
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/05—Animals comprising random inserted nucleic acids (transgenic)
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy

Landscapes

  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biochemistry (AREA)
  • Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Molecular Biology (AREA)
  • Wood Science & Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Biophysics (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Toxicology (AREA)
  • General Engineering & Computer Science (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)

Abstract

The invention relates to the field of gastroenteral disease in humans, more specifically to the field of liver disease, bile formation and bile acid secretion. In particular, it relates to gastroenteral disorders characterised by cholestasis, as for example seen with benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis, or other disorders related to impaired bile flow or bile acid secretion, particularly in mammals. The invention provides an isolated and/or recombinant nucleic acid, or a functional fragment or homologue thereof, derived from a gene, which gene comprises a mutation in patients with benign recurrent intrahepatic cholestasis (BRIC) or progressive familial intrahepatic cholestasis (PFIC), said nucleic acid in humans having a sequence substantially identical to a nucleic acid sequence as shown in Fig. 5.
PCT/NL1999/000033 1998-01-16 1999-01-18 Nucleic acid corresponding to mutation associated with cholestasis syndromes WO1999036533A2 (en)

Priority Applications (2)

Application Number Priority Date Filing Date Title
AU19863/99A AU1986399A (en) 1998-01-16 1999-01-18 Nucleic acid corresponding to mutation associated with cholestasis syndromes
EP99900717A EP1047786A2 (en) 1998-01-16 1999-01-18 Nucleic acid corresponding to mutation associated with cholestasis syndromes

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US7175298P 1998-01-16 1998-01-16
US60/071,752 1998-01-16

Publications (2)

Publication Number Publication Date
WO1999036533A2 WO1999036533A2 (en) 1999-07-22
WO1999036533A3 true WO1999036533A3 (en) 1999-09-23

Family

ID=22103353

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/NL1999/000033 WO1999036533A2 (en) 1998-01-16 1999-01-18 Nucleic acid corresponding to mutation associated with cholestasis syndromes

Country Status (3)

Country Link
EP (1) EP1047786A2 (en)
AU (1) AU1986399A (en)
WO (1) WO1999036533A2 (en)

Non-Patent Citations (8)

* Cited by examiner, † Cited by third party
Title
ARNELL, H. ET AL.: "Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22", HUMAN GENETICS, vol. 100, no. 3-4, September 1997 (1997-09-01), pages 378 - 381, XP002109429 *
BULL, L.N. ET AL.: "A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis", NAT GENET, vol. 18, no. 3, March 1998 (1998-03-01), pages 219-24, XP002109432 *
BULL, L.N. ET AL.: "Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC", HUMAN GENETICS, vol. 104, no. 3, March 1999 (1999-03-01), pages 241 - 248, XP002109434 *
BULL, L.N. ET AL.: "Localization of the BRIC/PFIC1 gene to a 250 kb interval through haplotype analysis", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 61, no. 4, October 1997 (1997-10-01), usa, pages a269, XP002109436 *
SINKE, R. J. ET AL.: "Benign recurrent intrahepatic cholestais (BRIC): evidence of genetic heterogeneity and delimitatiomn of the BRIC locus to a 7-cM interval between D18S69 and D18S64", HUMAN GENETICS, vol. 100, no. 3-4, September 1997 (1997-09-01), pages 382 - 387, XP002109430 *
STRAUTNIEKS, S.S. ET AL.: "Locus heterogeneity in progressive familial intrahepatic cholestasis", JOURNAL OF MEDICAL GENETICS, vol. 33, no. 10, October 1996 (1996-10-01), pages 833 - 836, XP002109431 *
TANG ET AL: "A subfamily of P-Type ATPases with aminophospholipid transporting activity", SCIENCE, vol. 272, 7 June 1996 (1996-06-07), pages 1495 - 1497, XP002085282, ISSN: 0036-8075 *
TYGSTRUP, N. ET AL.: "Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity", HEPATOLOGY, vol. 29, no. 2, February 1999 (1999-02-01), pages 506 - 508, XP002109433 *

Also Published As

Publication number Publication date
WO1999036533A2 (en) 1999-07-22
EP1047786A2 (en) 2000-11-02
AU1986399A (en) 1999-08-02

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