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={Kong Leong Toh and Christopher R. Jones and Yan He and Erik J. Eide and William A Hinz and David M. Virshup and Louis J. Pt{\'a}{\vc}ek and Ying-Hui Fu},
  journal={Science},
  year={2001},
  volume={291},
  pages={1040 - 1043}
}
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… 
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