Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome

Ying Xu, Quasar S. Padiath, Robert E. Shapiro, Christopher R. Jones, Susan C. Wu, Noriko Saigoh, Kazumasa Saigoh, Louis J. Ptáček and Ying-Hui Fu ()
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Ying Xu: University of California, San Francisco
Quasar S. Padiath: University of California, San Francisco
Robert E. Shapiro: College of Medicine, University of Vermont
Christopher R. Jones: University of Utah
Susan C. Wu: University of California, San Francisco
Noriko Saigoh: University of California, San Francisco
Kazumasa Saigoh: University of California, San Francisco
Louis J. Ptáček: University of California, San Francisco
Ying-Hui Fu: University of California, San Francisco

Nature, 2005, vol. 434, issue 7033, 640-644

Abstract: Sleep disorders: what larks Until recently, understanding human sleep was hindered by the absence of genetic variants in human sleep patterns. But in 1999 a family was diagnosed with familial advanced sleep phase syndrome (FASPS), and work on sleep genetics was underway. Affected individuals are ‘morning larks’ or ‘early birds’, with a four-hour advance of sleep, temperature and melatonin rhythms. A mutation causing FASPS has now been identified in the casein kinase 1d gene, in a residue conserved from humans to Drosophila. In both Drosophila and mouse models the mutation causes disruption in circadian rhythms, raising the possibility that they might be useful lab models for the development of drugs to treat sleep disorders.

Date: 2005
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DOI: 10.1038/nature03453

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