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Science. 2001 Feb 9;291(5506):1040-3.

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

Author information

1
Department of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.

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.

PMID:
11232563
DOI:
10.1126/science.1057499
[Indexed for MEDLINE]
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