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

Y Xu, QS Padiath, RE Shapiro, CR Jones, SC Wu… - Nature, 2005 - nature.com
Y Xu, QS Padiath, RE Shapiro, CR Jones, SC Wu, N Saigoh, K Saigoh, LJ Ptáček, YH Fu
Nature, 2005nature.com
Familial advanced sleep phase syndrome (FASPS) is a human behavioural phenotype
characterized by early sleep times and early-morning awakening. It was the first human,
mendelian circadian rhythm variant to be well-characterized, and was shown to result from a
mutation in a phosphorylation site within the casein kinase I (CKI)-binding domain of the
human PER2 gene. To gain a deeper understanding of the mechanisms of circadian rhythm
regulation in humans, we set out to identify mutations in human subjects leading to FASPS …
Abstract
Familial advanced sleep phase syndrome (FASPS) is a human behavioural phenotype characterized by early sleep times and early-morning awakening. It was the first human, mendelian circadian rhythm variant to be well-characterized, and was shown to result from a mutation in a phosphorylation site within the casein kinase I (CKI)-binding domain of the human PER2 gene. To gain a deeper understanding of the mechanisms of circadian rhythm regulation in humans, we set out to identify mutations in human subjects leading to FASPS. We report here the identification of a missense mutation (T44A) in the human CKIδ gene, which results in FASPS. This mutant kinase has decreased enzymatic activity in vitro. Transgenic Drosophila carrying the human CKIδ-T44A gene showed a phenotype with lengthened circadian period. In contrast, transgenic mice carrying the same mutation have a shorter circadian period, a phenotype mimicking human FASPS. These results show that CKIδ is a central component in the mammalian clock, and suggest that mammalian and fly clocks might have different regulatory mechanisms despite the highly conserved nature of their individual components.
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