[go: up one dir, main page]

WO2002034945A3 - Estrogen receptor alpha variants and methods of detection thereof - Google Patents

Estrogen receptor alpha variants and methods of detection thereof Download PDF

Info

Publication number
WO2002034945A3
WO2002034945A3 PCT/US2001/025990 US0125990W WO0234945A3 WO 2002034945 A3 WO2002034945 A3 WO 2002034945A3 US 0125990 W US0125990 W US 0125990W WO 0234945 A3 WO0234945 A3 WO 0234945A3
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/US2001/025990
Other languages
French (fr)
Other versions
WO2002034945A2 (en
Inventor
Francis Kalush
Michael J Cassel
Stuart Soo-In Hwang
Deen Emily S Winn
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
Applera 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 Applera Corp filed Critical Applera Corp
Priority to AU2001286560A priority Critical patent/AU2001286560A1/en
Priority to CA002426405A priority patent/CA2426405A1/en
Priority to JP2002560443A priority patent/JP2004531228A/en
Priority to EP01966016A priority patent/EP1328661A2/en
Publication of WO2002034945A2 publication Critical patent/WO2002034945A2/en
Publication of WO2002034945A3 publication Critical patent/WO2002034945A3/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)
  • Gastroenterology & Hepatology (AREA)
  • Toxicology (AREA)
  • Analytical Chemistry (AREA)
  • Cell Biology (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • High Energy & Nuclear Physics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Peptides Or Proteins (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (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/US2001/025990 2000-10-20 2001-08-21 Estrogen receptor alpha variants and methods of detection thereof Ceased WO2002034945A2 (en)

Priority Applications (4)

Application Number Priority Date Filing Date Title
AU2001286560A AU2001286560A1 (en) 2000-10-20 2001-08-21 Estrogen receptor alpha variants and methods of detection thereof
CA002426405A CA2426405A1 (en) 2000-10-20 2001-08-21 Estrogen receptor alpha variants and methods of detection thereof
JP2002560443A JP2004531228A (en) 2000-10-20 2001-08-21 Estrogen receptor alpha mutant and method for detecting the same
EP01966016A EP1328661A2 (en) 2000-10-20 2001-08-21 Estrogen receptor alpha variants and methods of detection thereof

Applications Claiming Priority (8)

Application Number Priority Date Filing Date Title
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
US80407601A 2001-03-13 2001-03-13
US09/804,076 2001-03-13
US82631401A 2001-04-05 2001-04-05
US09/826,314 2001-04-05

Publications (2)

Publication Number Publication Date
WO2002034945A2 WO2002034945A2 (en) 2002-05-02
WO2002034945A3 true WO2002034945A3 (en) 2002-08-08

Family

ID=27505440

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2001/025990 Ceased WO2002034945A2 (en) 2000-10-20 2001-08-21 Estrogen receptor alpha variants and methods of detection thereof

Country Status (5)

Country Link
EP (1) EP1328661A2 (en)
JP (1) JP2004531228A (en)
AU (1) AU2001286560A1 (en)
CA (1) CA2426405A1 (en)
WO (1) WO2002034945A2 (en)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20020123095A1 (en) * 1999-10-20 2002-09-05 Pe Corporation (Ny) Estrogen receptor alpha variants and methods of detection thereof
LT3388075T (en) 2015-03-27 2023-11-10 Immatics Biotechnologies Gmbh Novel peptides and combination of peptides for use in immunotherapy against various tumors (seq id 25 - mrax5-003)
GB201505305D0 (en) 2015-03-27 2015-05-13 Immatics Biotechnologies Gmbh Novel Peptides and combination of peptides for use in immunotherapy against various tumors

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 *

Also Published As

Publication number Publication date
CA2426405A1 (en) 2002-05-02
AU2001286560A1 (en) 2002-05-06
JP2004531228A (en) 2004-10-14
WO2002034945A2 (en) 2002-05-02
EP1328661A2 (en) 2003-07-23

Similar Documents

Publication Publication Date Title
Wolford et al. High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC)
Wagner et al. Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations
Hixson et al. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI.
LIU et al. Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders
Wagner et al. Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations
Leppers-Van de Straat et al. A novel PCR-based method for direct Fcγ receptor IIIa (CD16) allotyping
WO2003016565A3 (en) Dna sequence analysis
Braun et al. Identification of polymorphic sites of the human bradykinin B2 receptor gene
JP2009519703A5 (en)
JP2005160470A (en) Noninvasive detection of fetal genetic traits
WO2002061131A3 (en) Human single nucleotide polymorphisms
Tost et al. DNA analysis by mass spectrometry—past, present and future
WO2003018746A3 (en) Estrogen receptor alpha variants and methods of detection thereof
WO2001000803A3 (en) Apolipoprotein a-iv-related protein: polypeptide, polynucleotide sequences and biallelic markers thereof
GB2401433A (en) Methods of parallel gene cloning and analysis
Monckton et al. Allele-specific MVR-PCR analysis at minisatellite D1S8
WO2003014388A3 (en) Method and nucleic acids for the analysis of colon cancer
WO2001066800A3 (en) Human single nucleotide polymorphisms
WO2001062969A3 (en) Estrogen receptor alpha variants and methods of detection thereof
WO2001062793A3 (en) Estrogen receptor beta variants and methods of detection thereof
JP2006521812A5 (en)
WO2002034945A3 (en) Estrogen receptor alpha variants and methods of detection thereof
WO1999050454A3 (en) Coding sequence polymorphisms in vascular pathology genes
ATE397064T1 (en) GENOMIC AND COMPLETE CDNA SEQUENCES OF HUMAN ADIPOCYTE SPECIFIC APM1 AND BIALLELIC MARKERS THEREOF
WO2000058519A3 (en) Charaterization of single nucleotide polymorphisms in coding regions of human genes

Legal Events

Date Code Title Description
AK Designated states

Kind code of ref document: A3

Designated state(s): AE AG AL AM AT AU AZ BA BB BG BR BY BZ CA CH CN CO CR CU CZ DE DK DM DZ EC EE ES FI GB GD GE GH GM HR HU ID IL IN IS JP KE KG KP KR KZ LC LK LR LS LT LU LV MA MD MG MK MN MW MX MZ NO NZ PH PL PT RO RU SD SE SG SI SK SL TJ TM TR TT TZ UA UG UZ VN YU ZA ZW

AL Designated countries for regional patents

Kind code of ref document: A3

Designated state(s): GH GM KE LS MW MZ SD SL SZ TZ UG ZW AM AZ BY KG KZ MD RU TJ TM AT BE CH CY DE DK ES FI FR GB GR IE IT LU MC NL PT SE TR BF BJ CF CG CI CM GA GN GQ GW ML MR NE SN TD TG

121 Ep: the epo has been informed by wipo that ep was designated in this application
DFPE Request for preliminary examination filed prior to expiration of 19th month from priority date (pct application filed before 20040101)
WWE Wipo information: entry into national phase

Ref document number: 2426405

Country of ref document: CA

WWE Wipo information: entry into national phase

Ref document number: 2002560443

Country of ref document: JP

WWE Wipo information: entry into national phase

Ref document number: 2001966016

Country of ref document: EP

WWP Wipo information: published in national office

Ref document number: 2001966016

Country of ref document: EP

REG Reference to national code

Ref country code: DE

Ref legal event code: 8642

WWW Wipo information: withdrawn in national office

Ref document number: 2001966016

Country of ref document: EP