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WO2001062969A3 - Estrogen receptor alpha variants and methods of detection thereof - Google Patents

Estrogen receptor alpha variants and methods of detection thereof Download PDF

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Publication number
WO2001062969A3
WO2001062969A3 PCT/US2001/005358 US0105358W WO0162969A3 WO 2001062969 A3 WO2001062969 A3 WO 2001062969A3 US 0105358 W US0105358 W US 0105358W WO 0162969 A3 WO0162969 A3 WO 0162969A3
Authority
WO
WIPO (PCT)
Prior art keywords
estrogen receptor
methods
haplotypes
polymorphism
sequences
Prior art date
Legal status (The legal status 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 status listed.)
Ceased
Application number
PCT/US2001/005358
Other languages
French (fr)
Other versions
WO2001062969A2 (en
Inventor
Francis Kalush
Michael J Cassel
Stuart Soo-In Hwang
Emily S Winn-Deen
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Applied Biosystems Inc
Original Assignee
PE Corp
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 PE Corp filed Critical PE Corp
Priority to CA002400915A priority Critical patent/CA2400915A1/en
Priority to JP2001561777A priority patent/JP2004537959A/en
Priority to AU2001243196A priority patent/AU2001243196A1/en
Priority to EP01916135A priority patent/EP1259650A2/en
Publication of WO2001062969A2 publication Critical patent/WO2001062969A2/en
Publication of WO2001062969A3 publication Critical patent/WO2001062969A3/en
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

Links

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
    • C07K14/705—Receptors; Cell surface antigens; Cell surface determinants
    • C07K14/70567—Nuclear receptors, e.g. retinoic acid receptor [RAR], RXR, nuclear orphan receptors
    • 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

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Zoology (AREA)
  • Immunology (AREA)
  • Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Wood Science & Technology (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Physics & Mathematics (AREA)
  • Medicinal Chemistry (AREA)
  • High Energy & Nuclear Physics (AREA)
  • Toxicology (AREA)
  • Analytical Chemistry (AREA)
  • Cell Biology (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Gastroenterology & Hepatology (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)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Peptides Or Proteins (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Abstract

The present invention is based on sequencing genomic DNA from human chromosome 6 and cDNAs to define the genomic structure of estrogen receptor alpha genes and novel polymorphism/haplotypes in the estrogen receptor gene/protein. Such polymorphism/haplotypes can lead to a variety of disorders that are mediated/modulated by a variant estrogen receptor, such as a susceptibility to cancer, osteoporosis, cardiovascular disorder, etc. Based on this sequencing approach, the present invention provides genomic nucleotide sequences, cDNA sequences, amino acid sequences and sequence polymorphism/haplotypes in the ESR-alpha genes, methods of detecting these sequences/polymorphism/haplotypes in a sample, methods of determining a risk of having or developing a disorder mediated by a variant estrogen receptor and methods of screening for compounds used to treat disorders mediated by a variant estrogen receptor.
PCT/US2001/005358 2000-02-22 2001-02-20 Estrogen receptor alpha variants and methods of detection thereof Ceased WO2001062969A2 (en)

Priority Applications (4)

Application Number Priority Date Filing Date Title
CA002400915A CA2400915A1 (en) 2000-02-22 2001-02-20 Estrogen receptor alpha variants and methods of detection thereof
JP2001561777A JP2004537959A (en) 2000-02-22 2001-02-20 Estrogen receptor α mutant and method for detecting the same
AU2001243196A AU2001243196A1 (en) 2000-02-22 2001-02-20 Estrogen receptor alpha variants and methods of detection thereof
EP01916135A EP1259650A2 (en) 2000-02-22 2001-02-20 Estrogen receptor alpha variants and methods of detection thereof

Applications Claiming Priority (6)

Application Number Priority Date Filing Date Title
US18375600P 2000-02-22 2000-02-22
US60/183,756 2000-02-22
US69241400A 2000-10-20 2000-10-20
US09/692,414 2000-10-20
US76818401A 2001-01-24 2001-01-24
US09/768,184 2001-01-24

Publications (2)

Publication Number Publication Date
WO2001062969A2 WO2001062969A2 (en) 2001-08-30
WO2001062969A3 true WO2001062969A3 (en) 2002-03-14

Family

ID=27391734

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2001/005358 Ceased WO2001062969A2 (en) 2000-02-22 2001-02-20 Estrogen receptor alpha variants and methods of detection thereof

Country Status (5)

Country Link
EP (1) EP1259650A2 (en)
JP (1) JP2004537959A (en)
AU (1) AU2001243196A1 (en)
CA (1) CA2400915A1 (en)
WO (1) WO2001062969A2 (en)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7745230B2 (en) 2004-03-10 2010-06-29 Creighton University Estrogen receptors and methods of use

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6617162B2 (en) 2001-12-18 2003-09-09 Isis Pharmaceuticals, Inc. Antisense modulation of estrogen receptor alpha expression
US20020123095A1 (en) * 1999-10-20 2002-09-05 Pe Corporation (Ny) Estrogen receptor alpha variants and methods of detection thereof
US6897025B2 (en) * 2002-01-07 2005-05-24 Perlegen Sciences, Inc. Genetic analysis systems and methods
JP6153526B2 (en) 2011-09-06 2017-06-28 エージェンシー フォー サイエンス，テクノロジー アンド リサーチ Polypeptide vaccine

Non-Patent Citations (8)

* Cited by examiner, † Cited by third party
Title
DOTZLAW H ET AL.: "Characterization of estrogen receptor variant mRNAs from human breast cancers", MOLECULAR ENDOCRINOLOGY, vol. 6, no. 5, 1992, pages 773 - 785, XP001012041 *
GREEN S ET AL.: "Human oestrogen receptor cDNA: sequence, expression and homology to v-erb-A", NATURE, vol. 320, 1986, pages 134 - 139, XP001009860 *
JAZAERI O ET AL.: "Expression of estrogen receptor alpha mRNA and protein variants in human endometrial carcinoma", GYNECOLOGIC ONCOLOGY, vol. 74, July 1999 (1999-07-01), pages 38 - 47, XP001011870 *
LEMIEUX P AND FUQUA S: "The role of the estrogen receptor in tumor progression", THE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol. 56, no. 1-6, 1996, pages 87 - 91, XP001010876 *
LORENTZON M ET AL.: "Estrogen receptor gene polymorphism, but not estradiol levels, is related to bone density in healthy adolescent boys: A cross-sectional and longitudinal study", THE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol. 84, no. 12, 1999, pages 4597 - 4601, XP001011802 *
MURPHY L C ET AL.: "Estrogen receptor variants and mutations", JOURNAL OF STEROID BIOCHEMISTRY & MOLECULAR BIOLOGY, vol. 62, no. 5-6, 1997, pages 363 - 372, XP001010877 *
SCHUBERT E L ET AL.: "Single nucleotide polymorphisms (SNPs) in the estrogen receptor gene and breast cancer susceptibility", JOURNAL OF STEROID BIOCHEMISTRY & MOLECULAR BIOLOGY, vol. 71, November 1999 (1999-11-01), pages 21 - 27, XP001010874 *
WILTSCHKE C ET AL.: "Isolation of a 'super-active' estrogen receptor variant from premalignant breast lesions", BREAST CANCER RESEARCH TREATMENT, vol. 37, no. Sup, 1996, pages 40, XP001011239 *

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7745230B2 (en) 2004-03-10 2010-06-29 Creighton University Estrogen receptors and methods of use

Also Published As

Publication number Publication date
CA2400915A1 (en) 2001-08-30
WO2001062969A2 (en) 2001-08-30
EP1259650A2 (en) 2002-11-27
AU2001243196A1 (en) 2001-09-03
JP2004537959A (en) 2004-12-24

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