WO2001029254A3 - Identification of bpesc1, a gene disrupted by a balanced chromosomal translocation t(3;4) (q23;p15.2) in a patient with bpes - Google Patents

Identification of bpesc1, a gene disrupted by a balanced chromosomal translocation t(3;4) (q23;p15.2) in a patient with bpes Download PDF

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Publication number
WO2001029254A3
WO2001029254A3 PCT/EP2000/010310 EP0010310W WO0129254A3 WO 2001029254 A3 WO2001029254 A3 WO 2001029254A3 EP 0010310 W EP0010310 W EP 0010310W WO 0129254 A3 WO0129254 A3 WO 0129254A3
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WO
WIPO (PCT)
Prior art keywords
bpes
methods
patient
compositions
compounds
Prior art date
Application number
PCT/EP2000/010310
Other languages
French (fr)
Other versions
WO2001029254A2 (en
Inventor
Baere Elfride De
Ludwine Messiaen
Original Assignee
Univ Gent
Baere Elfride De
Ludwine Messiaen
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 Univ Gent, Baere Elfride De, Ludwine Messiaen filed Critical Univ Gent
Priority to AU11413/01A priority Critical patent/AU1141301A/en
Publication of WO2001029254A2 publication Critical patent/WO2001029254A2/en
Publication of WO2001029254A3 publication Critical patent/WO2001029254A3/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
    • C07K14/46—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
    • 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
    • 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)
    • 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

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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)

Abstract

The present invention describes the isolation and characterisation of BPSC1, a novel gene associated with the blepharophimosis syndrome (BPES). The invention comprises new nucleic acid sequences and amino acid sequences, probes and primers derived thereof, and methods to detect this novel gene in the genome. Also provided by the invention are probes and primers for diagnosing BPES, as well as methods and kits for diagnosing the same. Also provided are compounds as well as compositions for treating BPES, and methods for screening and producing said compounds and compositions. The invention also provides transgenic non-human animals with symptoms related to BPES to test said compounds or compositions. Also provided are methods for treating or preventing BPES in a patient.
PCT/EP2000/010310 1999-10-19 2000-10-19 Identification of bpesc1, a gene disrupted by a balanced chromosomal translocation t(3;4) (q23;p15.2) in a patient with bpes WO2001029254A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU11413/01A AU1141301A (en) 1999-10-19 2000-10-19 Identification of bpesc1, a novel gene disrupted by a balanced chromosomal translocation t(3;4)(q23;p15.2) in patient with bpes

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
EP99870219 1999-10-19
EP99870219.5 1999-10-19
US18323000P 2000-02-17 2000-02-17
US60/183,230 2000-02-17

Publications (2)

Publication Number Publication Date
WO2001029254A2 WO2001029254A2 (en) 2001-04-26
WO2001029254A3 true WO2001029254A3 (en) 2002-01-10

Family

ID=26153860

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/EP2000/010310 WO2001029254A2 (en) 1999-10-19 2000-10-19 Identification of bpesc1, a gene disrupted by a balanced chromosomal translocation t(3;4) (q23;p15.2) in a patient with bpes

Country Status (2)

Country Link
AU (1) AU1141301A (en)
WO (1) WO2001029254A2 (en)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
RU2799538C1 (en) * 2022-11-11 2023-07-05 Публичное акционерное общество "Центр Генетики и Репродуктивной Медицины "ГЕНЕТИКО" Preimplantation genetic testing method for blepharophimosis, ptosis and epicanthus reversal syndrome type 1,2

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP5341506B2 (en) * 2005-04-15 2013-11-13 エピゲノミクス アーゲー Methods and nucleic acids for cell proliferative disease analysis

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5637464A (en) * 1994-01-26 1997-06-10 Hybridon, Inc. Method of detecting sub-ppb levels of oligonucleotides in biological fluids

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5637464A (en) * 1994-01-26 1997-06-10 Hybridon, Inc. Method of detecting sub-ppb levels of oligonucleotides in biological fluids

Non-Patent Citations (9)

* Cited by examiner, † Cited by third party
Title
AMERICAN JOURNAL OF MEDICAL GENETICS, (1991 SEP 15) 40 (4) 485-7. *
DATABASE EMEST-HUM3 EMBL,Heidelberg; 24 June 1998 (1998-06-24), STRAUSBERG R.: "National Cancer INstitute,Cancer Genome Anatomy project (CGAP)", XP002143072 *
DATABASE EMHUM EMBL,Heidelberg; 17 October 2000 (2000-10-17), DE BAERE E. ET AL., XP002170322 *
DATABASE MEDLINE [online] US NATIONAL LIBRARY OF MEDICINE (NLM), BETHESDA, MD, US; DE BAERE E ET AL: "Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint.", XP002143071, retrieved from STN Database accession no. 1999208662 *
DATABASE MEDLINE [online] US NATIONAL LIBRARY OF MEDICINE (NLM), BETHESDA, MD, US; FUKUSHIMA Y ET AL: "Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: possible assignment of the trait to 3q23.", XP002143070, retrieved from STN Database accession no. 92081844 *
DATABASE MEDLINE [online] US NATIONAL LIBRARY OF MEDICINE (NLM), BETHESDA, MD, US; TOOMES C ET AL: "Refinement of a translocation breakpoint associated with blepharophimosis -ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23.", XP002143069, retrieved from STN Database accession no. 1999017967 *
DE BAERE E. ET AL.: "Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES", GENOMICS, vol. 68, no. 3, 15 September 2000 (2000-09-15), us, pages 296 - 304, XP001005441 *
GENOMICS, (1998 NOV 1) 53 (3) 308-14. *
GENOMICS, (1999 APR 1) 57 (1) 70-8. *

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
RU2799538C1 (en) * 2022-11-11 2023-07-05 Публичное акционерное общество "Центр Генетики и Репродуктивной Медицины "ГЕНЕТИКО" Preimplantation genetic testing method for blepharophimosis, ptosis and epicanthus reversal syndrome type 1,2

Also Published As

Publication number Publication date
WO2001029254A2 (en) 2001-04-26
AU1141301A (en) 2001-04-30

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