Molecular genetics of timing in intrinsic circadian rhythm sleep disorders.

Journal article

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: Wijnen, H; Boothroyd, C; Young, M; Claridge-Chang, A

• Publication status: Published
• Journal: Annals of medicine
• Volume: 34
• Issue: 5
• Pages: 386-393
• Publication date: 2002-01-01
• DOI: 10.1080/078538902320772133
• EISSN: 1365-2060
• ISSN: 0785-3890
• Language: English
• Keywords: Animals; Drosophila Proteins; Transcription Factors; Humans; Phosphorylation; Molecular Biology; Circadian Rhythm; Trans-Activators; CLOCK Proteins; Sleep Disorders, Intrinsic; Sleep Disorders, Circadian Rhythm; Point Mutation