Cited by 861Circadian rhythm and melatoninSleep and Wakefulness ResearchSleep and Work-Related Fatigue

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

Xu, Ying, Padiath, Quasar S., Shapiro, Robert E., Jones, Christopher R., Wu, Susan C., Saigoh, Noriko, Saigoh, Kazumasa, Ptáček, Louis J., Fu, Ying-Hui·2005·Nature

DOI 10.1038/nature03453

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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 CKIdelta gene, which results in FASPS. This mutant kinase has decreased enzymatic activity in vitro. Transgenic Drosophila carrying the human CKIdelta-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 CKIdelta 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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Authors: Xu, Y., Padiath, Q. S., Shapiro, R. E., Jones, C. R., Wu, S. C., Saigoh, N., Saigoh, K., Ptáček, L. J., & Fu, Y.-H.
Affiliations: University of California, San Francisco (US)
University of Vermont (US)
University of Utah (US)
Howard Hughes Medical Institute (US)
Corresponding author: Fu, Ying-Hui
ORCID: Xu, Ying
Padiath, Quasar S.
Shapiro, Robert E.
Jones, Christopher R.
Saigoh, Kazumasa
Ptáček, Louis J.
Fu, Ying-Hui
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2005-03
Volume: 434
Issue: 7033
Pages: 640-644
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature03453
OpenAlex: W1974495707
Cited by: 861
References: 30
Citations by year: 2026: 14 · 2025: 19 · 2024: 33 · 2023: 27 · 2022: 40 · 2021: 33 · 2020: 48 · 2019: 40 · 2018: 37 · 2017: 38 · 2016: 33 · 2015: 32 · 2014: 43 · 2013: 53 · 2012: 42
FWCI: 20.52
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
RePEc: Research Papers in Economics (submittedVersion)
Funders: Howard Hughes Medical Institute
Deutsches Krebsforschungszentrum
Stryker
National Institutes of Health
Topics: Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Circadian rhythm and melatonin
Life Sciences › Neuroscience › Cognitive Neuroscience › Sleep and Wakefulness Research
Social Sciences › Psychology › Experimental and Cognitive Psychology › Sleep and Work-Related Fatigue
Keywords: CK1δ, circadian rhythm, melatonin rhythm, transgenic Drosophila, transgenic mice, circadian period, clock gene regulation, sleep disorders
MeSH terms: Amino Acid Sequence, Animals, Caseins, Circadian Rhythm, Darkness, Drosophila melanogaster, Female, Humans, Light, Male, Mice, Transgenic, Molecular Sequence Data, Motor Activity, Pedigree, Phenotype, Phosvitin, Sleep Wake Disorders, Syndrome, Time Factors, Mutation, Missense, Animals, Genetically Modified, Casein Kinase Idelta, Mice

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

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