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

Published

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 2001

Published In

Volume / Issue

  • 291 / 5506

Start / End Page

  • 1040 - 1043

PubMed ID

  • 11232563

Pubmed Central ID

  • 11232563

Electronic International Standard Serial Number (EISSN)

  • 1095-9203

International Standard Serial Number (ISSN)

  • 0036-8075

Digital Object Identifier (DOI)

  • 10.1126/science.1057499

Language

  • eng