Molecular genetics of timing in intrinsic circadian rhythm sleep disorders.
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.
Wijnen
Herman
H
The Laboratory of Genetics, The Rockefeller University, New York, NY 10021, USA.
Boothroyd
Catharine
C
Young
Michael W
MW
Claridge-Chang
Adam
A
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
C120526:Clk protein, Drosophila; D029721:Drosophila Proteins; D015534:Trans-Activators; D014157:Transcription Factors; D056926:CLOCK Proteins; C538943:CLOCK protein, human