EP1358315A2 - Identification d'un gene du syndrome de phase de sommeil avancee chez les humains - Google Patents

Identification d'un gene du syndrome de phase de sommeil avancee chez les humains

Info

Publication number
EP1358315A2
EP1358315A2 EP02717323A EP02717323A EP1358315A2 EP 1358315 A2 EP1358315 A2 EP 1358315A2 EP 02717323 A EP02717323 A EP 02717323A EP 02717323 A EP02717323 A EP 02717323A EP 1358315 A2 EP1358315 A2 EP 1358315A2
Authority
EP
European Patent Office
Prior art keywords
hper2
phosphorylation
gene
human subject
sequence
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.)
Withdrawn
Application number
EP02717323A
Other languages
German (de)
English (en)
Other versions
EP1358315A4 (fr
Inventor
Louis Eccles Inst.of Human Genetics PTACEK
Ying-Hui Medical Resch & Education FU
Christopher Univ. of Utah School of Medi. JONES
David School of Medicine VIRSHUP
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.)
University of Utah Research Foundation UURF
Original Assignee
University of Utah Research Foundation UURF
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 University of Utah Research Foundation UURF filed Critical University of Utah Research Foundation UURF
Publication of EP1358315A2 publication Critical patent/EP1358315A2/fr
Publication of EP1358315A4 publication Critical patent/EP1358315A4/fr
Withdrawn legal-status Critical Current

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • C12N9/16—Hydrolases (3) acting on ester bonds (3.1)
    • 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
    • C07K14/4701—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals not used
    • C07K14/4702—Regulators; Modulating activity
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/10—Transferases (2.)
    • C12N9/12—Transferases (2.) transferring phosphorus containing groups, e.g. kinases (2.7)

Landscapes

  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • General Engineering & Computer Science (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Toxicology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Biophysics (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Enzymes And Modification Thereof (AREA)

Abstract

La présente invention concerne le gène hPER2 et un mutant du gène hPER2 intervenant dans l'horloge biologique humaine. Le produit du gène hPER2 mutant détecté chez certains malades atteints du syndrome familial de phase de sommeil avancée est hypophosphorylé par la caséine kinase epsilon en raison de la mutation sérine en glycine provoquée par la mutation ponctuelle de la séquence génomique. Plus précisément, cette mutation sérine en glycine affecte la région de liaison caséine kinase epsilon de la protéine hPER2, bloquant ainsi la cascade de phosphorylation habituellement provoquée par la liaison de caséine kinase epsilon à hPER2.
EP02717323A 2001-01-11 2002-01-11 Identification d'un gene du syndrome de phase de sommeil avancee chez les humains Withdrawn EP1358315A4 (fr)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US26105401P 2001-01-11 2001-01-11
US261054P 2001-01-11
PCT/US2002/000741 WO2002055667A2 (fr) 2001-01-11 2002-01-11 Identification d'un gene du syndrome de phase de sommeil avancee chez les humains

Publications (2)

Publication Number Publication Date
EP1358315A2 true EP1358315A2 (fr) 2003-11-05
EP1358315A4 EP1358315A4 (fr) 2005-11-16

Family

ID=22991764

Family Applications (1)

Application Number Title Priority Date Filing Date
EP02717323A Withdrawn EP1358315A4 (fr) 2001-01-11 2002-01-11 Identification d'un gene du syndrome de phase de sommeil avancee chez les humains

Country Status (3)

Country Link
EP (1) EP1358315A4 (fr)
AU (1) AU2002248338A1 (fr)
WO (1) WO2002055667A2 (fr)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2004038043A2 (fr) * 2002-10-25 2004-05-06 University Of Surrey Polymorphisme

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2000075669A1 (fr) * 1999-06-08 2000-12-14 Aventis Pharmaceuticals Inc. Methodes de criblage visant la modification des proteines du rythme circadien

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1999012952A1 (fr) * 1997-09-09 1999-03-18 Research Development Foundation Gene de mammifere de type rythme circadien

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2000075669A1 (fr) * 1999-06-08 2000-12-14 Aventis Pharmaceuticals Inc. Methodes de criblage visant la modification des proteines du rythme circadien

Non-Patent Citations (7)

* Cited by examiner, † Cited by third party
Title
CAMACHO F ET AL: "Human casein kinase Idelta phosphorylation of human circadian clock proteins period 1 and 2" FEBS LETTERS, ELSEVIER SCIENCE PUBLISHERS, AMSTERDAM, NL, vol. 489, no. 2-3, 2 February 2001 (2001-02-02), pages 159-165, XP004248878 ISSN: 0014-5793 *
FU Y ET AL: "An hPer2 phosphorylation site mutation in familial Advanced Sleep-Phase Syndrome" AMERICAN JOURNAL OF HUMAN GENETICS, vol. 69, no. 4 Supplement, October 2001 (2001-10), page 597, XP009054103 & 51ST ANNUAL MEETING OF THE AMERICAN SOCIETY OF HUMAN GENETICS; SAN DIEGO, CALIFORNIA, USA; OCTOBER 12-16, 2001 ISSN: 0002-9297 *
FU Y ET AL: "An hPER2 phosphorylation site mutation in familial advanced sleep-phase syndrome" SOCIETY FOR NEUROSCIENCE ABSTRACTS, vol. 27, no. 1, 2001, page 320, XP009054003 & 31ST ANNUAL MEETING OF THE SOCIETY FOR NEUROSCIENCE; SAN DIEGO, CALIFORNIA, USA; NOVEMBER 10-15, 2001 ISSN: 0190-5295 *
JONES CHRISTOPHER R ET AL: "Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans" NATURE MEDICINE, vol. 5, no. 9, September 1999 (1999-09), pages 1062-1065, XP002345730 ISSN: 1078-8956 *
See also references of WO02055667A2 *
SHEARMAN LAUREN P ET AL: "Two period homologs: Circadian expression and photic regulation in the suprachiasmatic nuclei" NEURON, vol. 19, no. 6, December 1997 (1997-12), pages 1261-1269, XP002345729 ISSN: 0896-6273 *
TOH KONG L ET AL: "An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome" SCIENCE (WASHINGTON D C), vol. 291, no. 5506, 9 February 2001 (2001-02-09), pages 1040-1043, XP002345732 ISSN: 0036-8075 *

Also Published As

Publication number Publication date
WO2002055667A3 (fr) 2003-04-17
WO2002055667A2 (fr) 2002-07-18
EP1358315A4 (fr) 2005-11-16
AU2002248338A1 (en) 2002-07-24

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