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An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.

Authors: Toh, KL  Jones, CR  He, Y  Eide, EJ  Hinz, WA  Virshup, DM  Ptacek, LJ  Fu, YH 
Citation: Toh KL, etal., Science. 2001 Feb 9;291(5506):1040-3.
Pubmed: (View Article at PubMed) PMID:11232563

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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CRRD Object Information
CRRD ID: 1600411
Created: 2007-03-08
Species: All species
Last Modified: 2007-03-08
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.