An hPer2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome

@article{Toh2001AnHP,
  title={An hPer2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome},
  author={K. Toh and C. R. Jones and Y. He and E. Eide and W. Hinz and D. Virshup and L. Pt{\'a}cek and Y. Fu},
  journal={Science},
  year={2001},
  volume={291},
  pages={1040 - 1043}
}
  • K. Toh, C. R. Jones, +5 authors Y. Fu
  • Published 2001
  • Biology, Medicine
  • Science
  • 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… CONTINUE READING

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