WO2002055667A3 - Identification of an advanced sleep phase syndrome gene in humans - Google Patents

Identification of an advanced sleep phase syndrome gene in humans Download PDF

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Publication number
WO2002055667A3
WO2002055667A3 PCT/US2002/000741 US0200741W WO02055667A3 WO 2002055667 A3 WO2002055667 A3 WO 2002055667A3 US 0200741 W US0200741 W US 0200741W WO 02055667 A3 WO02055667 A3 WO 02055667A3
Authority
WO
WIPO (PCT)
Prior art keywords
hper2
gene
casein kinase
sleep phase
phase syndrome
Prior art date
Application number
PCT/US2002/000741
Other languages
French (fr)
Other versions
WO2002055667A2 (en
Inventor
Louis Ptacek
Ying-Hui Fu
Christopher Jones
David Virshup
Original Assignee
University Of Utah Research Foundation
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 filed Critical University Of Utah Research Foundation
Priority to AU2002248338A priority Critical patent/AU2002248338A1/en
Priority to EP02717323A priority patent/EP1358315A4/en
Priority to US10/451,689 priority patent/US20040146873A1/en
Publication of WO2002055667A2 publication Critical patent/WO2002055667A2/en
Publication of WO2002055667A3 publication Critical patent/WO2002055667A3/en

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    • 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)

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

Abstract

The present invention includes the disclosure of the hPER2 gene and a mutant of the hPER2 gene that participates in the human circadian biological clock. The product of the mutant hPER2 gene found in some familial advanced sleep phase syndrome patients is hypophosphorylated by casein kinase epsilon due to the serine-to-glycine mutation caused by the point mutation of the genomic sequence. Specifically, this serine-to-glycine mutation affects the casein kinase epsilon binding region of the hPER2 protein, thus blocking the phosphorylation cascade ordinarily caused by the binding of casein kinase epsilon to hPER2.
PCT/US2002/000741 2001-01-11 2002-01-11 Identification of an advanced sleep phase syndrome gene in humans WO2002055667A2 (en)

Priority Applications (3)

Application Number Priority Date Filing Date Title
AU2002248338A AU2002248338A1 (en) 2001-01-11 2002-01-11 Identification of an advanced sleep phase syndrome gene in humans
EP02717323A EP1358315A4 (en) 2001-01-11 2002-01-11 Identification of an advanced sleep phase syndrome gene in humans
US10/451,689 US20040146873A1 (en) 2002-01-11 2002-01-11 Advanced sleep phase syndrome gen in humans

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US26105401P 2001-01-11 2001-01-11
US60/261,054 2001-01-11

Publications (2)

Publication Number Publication Date
WO2002055667A2 WO2002055667A2 (en) 2002-07-18
WO2002055667A3 true WO2002055667A3 (en) 2003-04-17

Family

ID=22991764

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2002/000741 WO2002055667A2 (en) 2001-01-11 2002-01-11 Identification of an advanced sleep phase syndrome gene in humans

Country Status (3)

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

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2004038043A2 (en) * 2002-10-25 2004-05-06 University Of Surrey POLYMORPHISM IN THE Per3 GENE AS A INDICATOR IN THE DIAGNOSIS AND TREATMENT OF CIRCADIAN RHYTHM SLEEP DISORDERS

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6190882B1 (en) * 1997-09-09 2001-02-20 Research Development Foundation Mammalian circadian rhythm-like gene

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2000075669A1 (en) * 1999-06-08 2000-12-14 Aventis Pharmaceuticals Inc. Screening methods for altering circadian rhythm proteins

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6190882B1 (en) * 1997-09-09 2001-02-20 Research Development Foundation Mammalian circadian rhythm-like gene

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
KONOPKA ET AL.: "Clock mutants of D. melanogaster", PROC. NATL. ACAD. SCI. USA, vol. 68, no. 9, 1971, pages 2112 - 2116, XP002960024 *
See also references of EP1358315A4 *

Also Published As

Publication number Publication date
EP1358315A2 (en) 2003-11-05
WO2002055667A2 (en) 2002-07-18
EP1358315A4 (en) 2005-11-16
AU2002248338A1 (en) 2002-07-24

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