WO1997005234A3 - Gene for friedreich's ataxia - Google Patents

Gene for friedreich's ataxia Download PDF

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Publication number
WO1997005234A3
WO1997005234A3 PCT/GB1996/001786 GB9601786W WO9705234A3 WO 1997005234 A3 WO1997005234 A3 WO 1997005234A3 GB 9601786 W GB9601786 W GB 9601786W WO 9705234 A3 WO9705234 A3 WO 9705234A3
Authority
WO
WIPO (PCT)
Prior art keywords
gene
friedreich
ataxia
stm7
nucleic
Prior art date
Application number
PCT/GB1996/001786
Other languages
French (fr)
Other versions
WO1997005234A2 (en
Inventor
Susan Chamberlain
Mark Adrian Pook
Christopher William Ed Doudney
Renate Hillermann
Jaime Juan C Garcia-Valdecasas
Original Assignee
Imperial College
Susan Chamberlain
Mark Adrian Pook
Christopher William Ed Doudney
Renate Hillermann
Garcia Valdecasas Jaime Juan C
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 GBGB9515309.4A external-priority patent/GB9515309D0/en
Priority claimed from GBGB9515508.1A external-priority patent/GB9515508D0/en
Application filed by Imperial College, Susan Chamberlain, Mark Adrian Pook, Christopher William Ed Doudney, Renate Hillermann, Garcia Valdecasas Jaime Juan C filed Critical Imperial College
Publication of WO1997005234A2 publication Critical patent/WO1997005234A2/en
Publication of WO1997005234A3 publication Critical patent/WO1997005234A3/en

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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
    • C12N9/10—Transferases (2.)
    • C12N9/12—Transferases (2.) transferring phosphorus containing groups, e.g. kinases (2.7)
    • C12N9/1205—Phosphotransferases with an alcohol group as acceptor (2.7.1), e.g. protein kinases
    • 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)

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  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Organic Chemistry (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Medicinal Chemistry (AREA)
  • Microbiology (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Biomedical Technology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)

Abstract

Idenfification of a gene, STM7, encoding for a novel phosphatidylinositol isoform responsible for Friedreich's Ataxia is claimed as well as splice variants resulting from recombination events. Of particular importance is the area of STM7 gene spanning exons 1 to 17, inclusive. The nucleic and amino acid sequences, cDNA sequences, antibodies and DNA probes complementary to the nucleic and amino acid sequences are also claimed as part of the present invention. Transgenic animals and diagnostic protocols are also given.
PCT/GB1996/001786 1995-07-26 1996-07-24 Gene for friedreich's ataxia WO1997005234A2 (en)

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
GB9515309.4 1995-07-26
GBGB9515309.4A GB9515309D0 (en) 1995-07-26 1995-07-26 Gene for friedreich's ataxia
GB9515508.1 1995-07-28
GBGB9515508.1A GB9515508D0 (en) 1995-07-28 1995-07-28 Gene for friedreich's ataxia

Publications (2)

Publication Number Publication Date
WO1997005234A2 WO1997005234A2 (en) 1997-02-13
WO1997005234A3 true WO1997005234A3 (en) 1997-05-01

Family

ID=26307465

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/GB1996/001786 WO1997005234A2 (en) 1995-07-26 1996-07-24 Gene for friedreich's ataxia

Country Status (1)

Country Link
WO (1) WO1997005234A2 (en)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6150091A (en) * 1996-03-06 2000-11-21 Baylor College Of Medicine Direct molecular diagnosis of Friedreich ataxia
US20020164750A1 (en) * 2000-11-14 2002-11-07 Meyers Rachel E. 56634, a novel human phosphatidylinositol 4-phosphate 5-kinase family member and uses thereof

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
I.V. BORONENKOV AND R.A. ANDERSON: "The sequence of phosphatidylinositol-4-phosphate 5-kinase defines a novel family of lipid kinases", JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 270, no. 7, 1995, pages 2881 - 2884, XP002027242 *
J.C. LOIJENS AND R.A. ANDERSON: "Type I phosphatidylinositol-4-phosphate 5-kinases are distinct members of this novel lipid kinase family", JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 271, no. 51, 1996, pages 32937 - 32943, XP002027241 *
JAIME J. CARVAJAL ET AL.: "The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase", NATURE GENETICS, vol. 14, 1996, pages 157 - 162, XP000651379 *
N. DIVECHA ET AL.: "The cloning and sequence of the C isoform of PtdIns4P 5-kinase", BIOCHEMICAL JOURNAL, vol. 309, 1995, pages 715 - 719, XP000651470 *

Also Published As

Publication number Publication date
WO1997005234A2 (en) 1997-02-13

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