The DOI matches its Crossref record; 30 of the 30 references it cites were found in a registry or an index.
Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome
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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“Herein, specific mutations in circadian clock regulators that affect human circadian behavior and the period of the underlying clock have been identified (38, 39).”
From Chronotype: Implications for Epidemiologic Studies on Chrono-Nutrition and Cardiometabolic Health (2019) · cites this paper as [39]
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Pathophysiology of migraine: a disorder of sensory processing
Goadsby, P. J., Holland, P. R., Martins-Oliveira, M., Hoffmann, J., Schankin, C., & Akerman, S. (2017) · Physiological Reviews · doi:10.1152/physrev.00034.2015 · Cited by 1,998
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The genetics of mammalian circadian order and disorder: implications for physiology and disease
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Control of sleep and wakefulness
Brown, R. E., Basheer, R., McKenna, J. T., Strecker, R. E., & McCarley, R. W. (2012) · Physiological Reviews · doi:10.1152/physrev.00032.2011 · Cited by 1,477
Metadata
- 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
- Venue
- Nature
- Published
- 2005-03
- Volume
- 434
- Issue
- 7033
- Pages
- 640-644
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- 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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