Cited by 1,460Circadian rhythm and melatoninSleep and Wakefulness ResearchSleep and Work-Related Fatigue

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An h Per2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome

Toh, Kong L., Jones, Christopher R., He, Yan, Eide, Erik J., Hinz, William A., Virshup, David M., Ptáček, Louis J., Fu, Ying-Hui·2001·Science

DOI 10.1126/science.1057499

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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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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).
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Web text is available at Science Online at www.sciencemag.org/cgi/content/full/1057499/DC1.

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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.
ORCID: Jones, Christopher R.
He, Yan
Virshup, David M.
Fu, Ying-Hui
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 2001-02-09
Volume: 291
Issue: 5506
Pages: 1040-1043
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.1057499
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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An h Per2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome

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