WO2009047809A3 - Sequence variants for inferring human pigmentation patterns - Google Patents

Sequence variants for inferring human pigmentation patterns Download PDF

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Publication number
WO2009047809A3
WO2009047809A3 PCT/IS2008/000017 IS2008000017W WO2009047809A3 WO 2009047809 A3 WO2009047809 A3 WO 2009047809A3 IS 2008000017 W IS2008000017 W IS 2008000017W WO 2009047809 A3 WO2009047809 A3 WO 2009047809A3
Authority
WO
WIPO (PCT)
Prior art keywords
variants
pigmentation patterns
sequence variants
patterns
useful
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/IS2008/000017
Other languages
French (fr)
Other versions
WO2009047809A2 (en
Inventor
Patrick Sulem
Daniel Gudbjartsson
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.)
Decode Genetics ehf
Original Assignee
Decode Genetics ehf
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 Decode Genetics ehf filed Critical Decode Genetics ehf
Priority to EP08837879A priority Critical patent/EP2207894A2/en
Priority to US12/682,587 priority patent/US20100216655A1/en
Priority to CA2702169A priority patent/CA2702169A1/en
Priority to AU2008310530A priority patent/AU2008310530A1/en
Publication of WO2009047809A2 publication Critical patent/WO2009047809A2/en
Publication of WO2009047809A3 publication Critical patent/WO2009047809A3/en
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

Links

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
    • C12Q1/6876—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
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • 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
    • C12Q2600/172—Haplotypes

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Pathology (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Wood Science & Technology (AREA)
  • Physics & Mathematics (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Hospice & Palliative Care (AREA)
  • Biophysics (AREA)
  • Oncology (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)

Abstract

The present invention discloses variants that are predictive of human pigmentation patterns. The invention furthermore relates to variants that are useful for determining risk of skin cancer, including melanoma and basal cell carcinoma. The disclosed variants can be utilized for the determination of the natural pigmentation patterns of a human individual, and for determining a susceptibility to melanoma and basal cell carcinoma, from a sample of genetic material. Methods and kits including the variants described are useful in e.g. forensic testing and diagnostic applications.
PCT/IS2008/000017 2007-10-12 2008-10-13 Sequence variants for inferring human pigmentation patterns Ceased WO2009047809A2 (en)

Priority Applications (4)

Application Number Priority Date Filing Date Title
EP08837879A EP2207894A2 (en) 2007-10-12 2008-10-13 Sequence variants for inferring human pigmentation patterns
US12/682,587 US20100216655A1 (en) 2007-10-12 2008-10-13 Sequence variants for inferring human pigmentation patterns
CA2702169A CA2702169A1 (en) 2007-10-12 2008-10-13 Sequence variants for inferring human pigmentation patterns
AU2008310530A AU2008310530A1 (en) 2007-10-12 2008-10-13 Sequence variants for inferring human pigmentation patterns

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
IS8683 2007-10-12
IS8683 2007-10-12
IS8731 2008-05-16
IS8731 2008-05-16

Publications (2)

Publication Number Publication Date
WO2009047809A2 WO2009047809A2 (en) 2009-04-16
WO2009047809A3 true WO2009047809A3 (en) 2009-08-13

Family

ID=40380233

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/IS2008/000017 Ceased WO2009047809A2 (en) 2007-10-12 2008-10-13 Sequence variants for inferring human pigmentation patterns

Country Status (5)

Country Link
US (1) US20100216655A1 (en)
EP (1) EP2207894A2 (en)
AU (1) AU2008310530A1 (en)
CA (1) CA2702169A1 (en)
WO (1) WO2009047809A2 (en)

Families Citing this family (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2010131268A1 (en) * 2009-05-11 2010-11-18 Decode Genetics Ehf Genetic variants for basal cell carcinoma, squamous cell carcinoma and cutaneous melanoma
MX365620B (en) * 2012-11-21 2019-06-07 Univ Cincinnati Skin care compositions and methods comprising selective agonists of melanocortin 1 receptor.
US12045742B1 (en) 2015-04-18 2024-07-23 Mikhail Ulinich Sharing probabilities for user traits
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
EP3414691A1 (en) 2016-02-12 2018-12-19 Regeneron Pharmaceuticals, Inc. Methods and systems for detection of abnormal karyotypes
CN107893107A (en) * 2017-11-30 2018-04-10 深圳美因医学检验实验室 A kind of fluorescence quantitative PCR detection system and its application for melanoma gene screening
CN108342469A (en) * 2018-02-27 2018-07-31 广州中安基因科技有限公司 A kind of genetic chip of cutaneous gene detection
CN108950013A (en) * 2018-07-27 2018-12-07 江颖纯 A kind of skin-related gene site library and its construction method and application
EP3935581A4 (en) 2019-03-04 2022-11-30 Iocurrents, Inc. Data compression and communication using machine learning
CN109706253A (en) * 2019-03-14 2019-05-03 苏州罗塞塔生物科技有限公司 Cutaneous gene detection method
CN114399510B (en) * 2021-12-25 2024-06-25 西安交通大学医学院第二附属医院 Skin lesion segmentation and classification method and system combining images and clinical metadata

Citations (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2001062964A2 (en) * 2000-02-22 2001-08-30 Isis Innovation Limited A genetic determinant for malignant melanoma
US20030175721A1 (en) * 2001-03-28 2003-09-18 Box Neil F. Melanoma risk detection
US20050064440A1 (en) * 2002-11-06 2005-03-24 Roth Richard B. Methods for identifying risk of melanoma and treatments thereof
US20060051768A1 (en) * 2003-03-25 2006-03-09 John Wayne Cancer Institute DNA markers for management of cancer
US7166427B1 (en) * 1999-02-26 2007-01-23 The Ohio University Research Foundation Detecting the expression of the DESC1 gene in squamous cell carcinoma
EP1835036A1 (en) * 2006-03-16 2007-09-19 Exonhit Therapeutics SA Methods and compositions for the detection and treatment of cancers

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US4376110A (en) * 1980-08-04 1983-03-08 Hybritech, Incorporated Immunometric assays using monoclonal antibodies
DE3486488T2 (en) * 1983-01-10 2003-04-03 Gen-Probe Inc., San Diego Methods for the detection, identification and quantification of organisms and viruses
US5288611A (en) * 1983-01-10 1994-02-22 Gen-Probe Incorporated Method for detecting, identifying, and quantitating organisms and viruses
US5700637A (en) * 1988-05-03 1997-12-23 Isis Innovation Limited Apparatus and method for analyzing polynucleotide sequences and method of generating oligonucleotide arrays
US6054270A (en) * 1988-05-03 2000-04-25 Oxford Gene Technology Limited Analying polynucleotide sequences
US5223409A (en) * 1988-09-02 1993-06-29 Protein Engineering Corp. Directed evolution of novel binding proteins
US5744101A (en) * 1989-06-07 1998-04-28 Affymax Technologies N.V. Photolabile nucleoside protecting groups
US5143854A (en) * 1989-06-07 1992-09-01 Affymax Technologies N.V. Large scale photolithographic solid phase synthesis of polypeptides and receptor binding screening thereof
EP0695941B1 (en) * 1994-06-08 2002-07-31 Affymetrix, Inc. Method and apparatus for packaging a chip
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CA2255774C (en) * 1996-05-29 2008-03-18 Cornell Research Foundation, Inc. Detection of nucleic acid sequence differences using coupled ligase detection and polymerase chain reactions
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Patent Citations (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7166427B1 (en) * 1999-02-26 2007-01-23 The Ohio University Research Foundation Detecting the expression of the DESC1 gene in squamous cell carcinoma
WO2001062964A2 (en) * 2000-02-22 2001-08-30 Isis Innovation Limited A genetic determinant for malignant melanoma
US20030175721A1 (en) * 2001-03-28 2003-09-18 Box Neil F. Melanoma risk detection
US20050064440A1 (en) * 2002-11-06 2005-03-24 Roth Richard B. Methods for identifying risk of melanoma and treatments thereof
US20060051768A1 (en) * 2003-03-25 2006-03-09 John Wayne Cancer Institute DNA markers for management of cancer
EP1835036A1 (en) * 2006-03-16 2007-09-19 Exonhit Therapeutics SA Methods and compositions for the detection and treatment of cancers

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
FARGNOLI MARIA CONCETTA ET AL: "Re: MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population", JOURNAL OF THE NATIONAL CANCER INSTITUTE (CARY), vol. 98, no. 2, January 2006 (2006-01-01), pages 144 - 145, XP002518139, ISSN: 0027-8874 *
GUDBJARTSSON DANIEL F ET AL: "ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma", NATURE GENETICS, vol. 40, no. 7, July 2008 (2008-07-01), pages 886 - 891, XP002518142, ISSN: 1061-4036 *
LANDI MARIA TERESA ET AL: "MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population", JOURNAL OF THE NATIONAL CANCER INSTITUTE (CARY), vol. 97, no. 13, July 2005 (2005-07-01), pages 998 - 1007, XP002518138, ISSN: 0027-8874 *
SULEM PATRICK ET AL: "Genetic determinants of hair, eye and skin pigmentation in Europeans", NATURE GENETICS, vol. 39, no. 12, December 2007 (2007-12-01), pages 1443 - 1452, XP002518141, ISSN: 1061-4036 *

Also Published As

Publication number Publication date
WO2009047809A2 (en) 2009-04-16
CA2702169A1 (en) 2009-04-16
EP2207894A2 (en) 2010-07-21
AU2008310530A1 (en) 2009-04-16
US20100216655A1 (en) 2010-08-26

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