Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome

@article{Xu2005FunctionalCO,
  title={Functional consequences of a CKI$\delta$ mutation causing familial advanced sleep phase syndrome},
  author={Ying Xu and Quasar Saleem Padiath and Robert E. Shapiro and Christopher R. Jones and Susan C. Wu and Noriko Saigoh and Kazumasa Saigoh and Louis J. Pt{\'a}{\vc}ek and Ying-Hui Fu},
  journal={Nature},
  year={2005},
  volume={434},
  pages={640-644}
}
Familial advanced sleep phase syndrome (FASPS) is a human behavioural phenotype characterized by early sleep times and early-morning awakening. It was the first human, mendelian circadian rhythm variant to be well-characterized, and was shown to result from a mutation in a phosphorylation site within the casein kinase I (CKI)-binding domain of the human PER2 gene. To gain a deeper understanding of the mechanisms of circadian rhythm regulation in humans, we set out to identify mutations in human… 
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