WO2002006527A3 - Method for detection of truncated proteins - Google Patents

Method for detection of truncated proteins Download PDF

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Publication number
WO2002006527A3
WO2002006527A3 PCT/US2001/010672 US0110672W WO0206527A3 WO 2002006527 A3 WO2002006527 A3 WO 2002006527A3 US 0110672 W US0110672 W US 0110672W WO 0206527 A3 WO0206527 A3 WO 0206527A3
Authority
WO
WIPO (PCT)
Prior art keywords
catalytically
mutation
detector
nucleotide sequence
linker region
Prior art date
Application number
PCT/US2001/010672
Other languages
French (fr)
Other versions
WO2002006527A2 (en
Inventor
David Hornby
Maryam Matin
Original Assignee
Transgenomic Inc
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 Transgenomic Inc filed Critical Transgenomic Inc
Priority to AU2001253092A priority Critical patent/AU2001253092A1/en
Publication of WO2002006527A2 publication Critical patent/WO2002006527A2/en
Publication of WO2002006527A3 publication Critical patent/WO2002006527A3/en

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Classifications

    • 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
    • C12Q1/6897—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids involving reporter genes operably linked to promoters

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  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Analytical Chemistry (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)

Abstract

The present invention can be used to detect and characterize a genetic mutations in a nucleic acid sample of interest. The invention involves the use of a detector nucleotide sequence encoding a polypeptide, the activity of which can be attenuated or modified when a target sequence including a mutation is cloned into a linker region of the detector nucleotide sequence. In one aspect, the detector nucleotide sequence encodes a detector polypeptide comprising two or more catalytically-essential domains separated by a linker region, where the catalytically-essential domains can function in concert to catalyze a detectable reaction. A mutation in the linker region that results in the elimination of one of the catalytically-essential domains, either by truncation or by substantially altering its amino acid sequence, will result in a detectable activity loss, thereby signaling the presence of a mutation.
PCT/US2001/010672 2000-07-13 2001-04-02 Method for detection of truncated proteins WO2002006527A2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2001253092A AU2001253092A1 (en) 2000-07-13 2001-04-02 Method for detection of truncated proteins

Applications Claiming Priority (8)

Application Number Priority Date Filing Date Title
US21836700P 2000-07-13 2000-07-13
US60/218,367 2000-07-13
US23548300P 2000-09-26 2000-09-26
US60/235,483 2000-09-26
US67889100A 2000-10-04 2000-10-04
US09/678,891 2000-10-04
US71659600A 2000-11-20 2000-11-20
US09/716,596 2000-11-20

Publications (2)

Publication Number Publication Date
WO2002006527A2 WO2002006527A2 (en) 2002-01-24
WO2002006527A3 true WO2002006527A3 (en) 2003-10-02

Family

ID=27499111

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2001/010672 WO2002006527A2 (en) 2000-07-13 2001-04-02 Method for detection of truncated proteins

Country Status (2)

Country Link
AU (1) AU2001253092A1 (en)
WO (1) WO2002006527A2 (en)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2009037266A2 (en) * 2007-09-17 2009-03-26 Universite Louis Pasteur Method for detecting or quantifying a truncating mutation
DE102007052344B3 (en) * 2007-11-02 2009-03-12 Geneart Ag Selection of Encoding Nucleic Acid Constructs for the Absence of Frameshift Mutations
RU2506315C2 (en) * 2012-03-23 2014-02-10 Федеральное государственное бюджетное учреждение "Научно-исследовательский институт молекулярной биологии и биофизики" Сибирского отделения Российской академии медицинских наук (ФГБУ "НИИМББ" СО РАМН) Plasmid vector and method of detecting nonsense mutations and frameshift mutations in brca1 gene

Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1997001639A2 (en) * 1995-06-27 1997-01-16 The University Of Sheffield Selection of recombinant molecules
WO1997011972A1 (en) * 1995-09-28 1997-04-03 The Trustees Of Columbia University In The City Of New York Chimeric dna-binding/dna methyltransferase nucleic acid and polypeptide and uses thereof
EP0872560A1 (en) * 1996-10-09 1998-10-21 Srl, Inc. Method for detecting nonsense mutations and frameshift mutations
WO1999038961A1 (en) * 1998-01-30 1999-08-05 Sepracor Inc. Gene regulator fusion proteins and methods of using the same for determining resistance of a protein to a drug targeted thereagainst

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1997001639A2 (en) * 1995-06-27 1997-01-16 The University Of Sheffield Selection of recombinant molecules
WO1997011972A1 (en) * 1995-09-28 1997-04-03 The Trustees Of Columbia University In The City Of New York Chimeric dna-binding/dna methyltransferase nucleic acid and polypeptide and uses thereof
EP0872560A1 (en) * 1996-10-09 1998-10-21 Srl, Inc. Method for detecting nonsense mutations and frameshift mutations
WO1999038961A1 (en) * 1998-01-30 1999-08-05 Sepracor Inc. Gene regulator fusion proteins and methods of using the same for determining resistance of a protein to a drug targeted thereagainst

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
KUKLIN A ET AL: "A novel technique for rapid automated genotyping of DNA polymorphisms in the mouse", MOLECULAR AND CELLULAR PROBES, ACADEMIC PRESS, LONDON, GB, vol. 13, no. 3, June 1999 (1999-06-01), pages 239 - 242, XP002159014, ISSN: 0890-8508 *

Also Published As

Publication number Publication date
WO2002006527A2 (en) 2002-01-24
AU2001253092A1 (en) 2002-01-30

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