title: Molecular genetics of timing in intrinsic circadian rhythm sleep disorders.
abstract: Recent advances in circadian biology are identifying key genes and the molecular clockworks they command. These biochemical systems provide new tools for evaluating clinically observed, intrinsic circadian rhythm sleep disorders. A striking example was last year's discovery of a point mutation in a human clock gene that produces a sleep phase syndrome. This finding suggested that other intrinsic sleep disorders may have genetic underpinnings, and that less debilitating variations in sleep/wake behavior may be revealed by molecular screening of known clock genes in broader human populations.
authors.affiliation: The Laboratory of Genetics, The Rockefeller University, New York, NY 10021, USA.
authors.forename: Herman
authors.initials: H
authors.lastname: Wijnen
authors.forename: Catharine
authors.initials: C
authors.lastname: Boothroyd
authors.forename: Michael W
authors.initials: MW
authors.lastname: Young
authors.forename: Adam
authors.initials: A
authors.lastname: Claridge-Chang
mesh_terms: D000818:Animals; D056926:CLOCK Proteins; D002940:Circadian Rhythm / Q000235:genetics; D029721:Drosophila Proteins; D006801:Humans; D008967:Molecular Biology; D010766:Phosphorylation; D017354:Point Mutation; D020178:Sleep Disorders, Circadian Rhythm / Q000235:genetics*; D020919:Sleep Disorders, Intrinsic / Q000235:genetics; D015534:Trans-Activators / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: C120526:Clk protein, Drosophila; D029721:Drosophila Proteins; D015534:Trans-Activators; D014157:Transcription Factors; D056926:CLOCK Proteins; C538943:CLOCK protein, human