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An h Per2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome
Abstract
Familial advanced sleep phase syndrome (FASPS) is an autosomal dominant circadian rhythm variant; affected individuals are "morning larks" with a 4-hour advance of the sleep, temperature, and melatonin rhythms. Here we report localization of the FASPS gene near the telomere of chromosome 2q. A strong candidate gene (hPer2), a human homolog of the period gene in Drosophila, maps to the same locus. Affected individuals have a serine to glycine mutation within the casein kinase Iepsilon (CKIepsilon) binding region of hPER2, which causes hypophosphorylation by CKIepsilon in vitro. Thus, a variant in human sleep behavior can be attributed to a missense mutation in a clock component, hPER2, which alters the circadian period.
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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 [38]
In the citing paper
“Examples of circadian clock gene mutations which impact circadian function include familial advanced sleep phase syndrome in humans and the many clock gene mutations in experimental animals”
From The impact of the circadian timing system on cardiovascular and metabolic function (2012) · cites this paper as Toh et al., 2001
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- Individuals who did not meet either the conservative affected or unaffected criteria were classified as unknown. Venous blood samples were gathered from individuals from ASPS families who were likely to contribute to linkage information. Participants signed a “Consent of Participation” form which was approved by the Institutional Review Board for Human Research at the University of Utah School of Medicine. High–molecular weight genomic DNA was isolated from whole-blood lysates and lymphoblastoid cell lines were transformed with Epstein-Barr virus as described (36).
- Klerman E. B., et al., Am. J. Physiol. 270, R271 (1996).
- Web text is available at Science Online at www.sciencemag.org/cgi/content/full/1057499/DC1.
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Metadata
- Authors
- Toh, K. L., Jones, C. R., He, Y., Eide, E. J., Hinz, W. A., Virshup, D. M., Ptáček, L. J., & Fu, Y.-H.
- Affiliations
- Department of Human Genetics,
- Department of Neurology,
- Department of Neurobiology and Anatomy,
- Huntsman Cancer Institute (US)
- Corresponding author
- Toh, Kong L.
- Jones, Christopher R.
- Venue
- Science
- Published
- 2001-02-09
- Volume
- 291
- Issue
- 5506
- Pages
- 1040-1043
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1990192893
- Cited by
- 1,460
- References
- 24
- Citations by year
- 2026: 20 · 2025: 44 · 2024: 46 · 2023: 34 · 2022: 52 · 2021: 46 · 2020: 55 · 2019: 57 · 2018: 51 · 2017: 57 · 2016: 50 · 2015: 58 · 2014: 63 · 2013: 72 · 2012: 63
- FWCI
- 21.43
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Heart, Lung, and Blood Institute (HL/HD 59596)
- National Center for Research Resources (M01RR000064)
- 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
- casein kinase I epsilon, circadian rhythm, clock genes, chromosome 2q, sleep timing, melatonin rhythm
- MeSH terms
- Amino Acid Sequence, Animals, Binding Sites, Biological Clocks, Chromosome Mapping, Chromosomes, Human, Pair 2, Circadian Rhythm, Exons, Female, Glycine, Humans, Genetic Linkage, Male, Molecular Sequence Data, Nuclear Proteins, Pedigree, Phosphorylation, Protein Kinases, Proteins, Serine, Transcription Factors, Polymorphism, Single-Stranded Conformational, Amino Acid Substitution, Mutation, Missense, Sleep Disorders, Circadian Rhythm, Casein Kinases, Period Circadian Proteins
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