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An hPer2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome

Science  09 Feb 2001:
Vol. 291, Issue 5506, pp. 1040-1043
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 Iɛ(CKIɛ) binding region of hPER2, which causes hypophosphorylation by CKIɛ 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.

  • * These authors contributed equally to this work.

  • To whom correspondence should be addressed. E-mail: ptacek{at}genetics.utah.edu

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