An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.
Journal Article (Journal Article)
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.
Full Text
Duke Authors
Cited Authors
- Toh, KL; Jones, CR; He, Y; Eide, EJ; Hinz, WA; Virshup, DM; Ptácek, LJ; Fu, YH
Published Date
- February 9, 2001
Published In
Volume / Issue
- 291 / 5506
Start / End Page
- 1040 - 1043
PubMed ID
- 11232563
International Standard Serial Number (ISSN)
- 0036-8075
Digital Object Identifier (DOI)
- 10.1126/science.1057499
Language
- eng
Conference Location
- United States