An h <i>Per2</i> Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome

• Kong L. Toh

  Department of Human Genetics,

• Christopher R. Jones

  Department of Neurology,

• Yan He

  Department of Neurobiology and Anatomy,

• Erik J. Eide

  Department of Oncological Sciences and the Huntsman Cancer Institute Center for Children,

• William A. Hinz

  Department of Oncological Sciences and the Huntsman Cancer Institute Center for Children,

• David M. Virshup

  Department of Oncological Sciences and the Huntsman Cancer Institute Center for Children,

• Louis J. Ptáček

  Department of Neurology,

• Ying-Hui Fu

  Department of Neurobiology and Anatomy,

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 (h Per2 ), 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 I ɛ (CKI ɛ ) binding region of hPER2, which causes hypophosphorylation by CKI ɛ 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.

Journal

• Science

  Science 291 (5506), 1040-1043, 2001-02-09

  American Association for the Advancement of Science (AAAS)

Keywords

• Multidisciplinary

Details

• CRID: 1363388846133755136
• NII Article ID: 80012304994
• DOI: 10.1126/science.1057499
• ISSN: 10959203
• ISSN: 00368075
• ISSN: http://id.crossref.org/issn/00368075
• Web Site: https://www.science.org/doi/pdf/10.1126/science.1057499
• Data Source:
  • Crossref
  • CiNii Articles