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

Author

Listed:
  • Ying Xu

    (University of California, San Francisco)

  • Quasar S. Padiath

    (University of California, San Francisco)

  • Robert E. Shapiro

    (College of Medicine, University of Vermont)

  • Christopher R. Jones

    (University of Utah)

  • Susan C. Wu

    (University of California, San Francisco)

  • Noriko Saigoh

    (University of California, San Francisco)

  • Kazumasa Saigoh

    (University of California, San Francisco
    Kinki University School of Medicine)

  • Louis J. Ptáček

    (University of California, San Francisco
    Howard Hughes Medical Institute, UCSF)

  • Ying-Hui Fu

    (University of California, San Francisco)

Abstract

Sleep disorders: what larks Until recently, understanding human sleep was hindered by the absence of genetic variants in human sleep patterns. But in 1999 a family was diagnosed with familial advanced sleep phase syndrome (FASPS), and work on sleep genetics was underway. Affected individuals are ‘morning larks’ or ‘early birds’, with a four-hour advance of sleep, temperature and melatonin rhythms. A mutation causing FASPS has now been identified in the casein kinase 1d gene, in a residue conserved from humans to Drosophila. In both Drosophila and mouse models the mutation causes disruption in circadian rhythms, raising the possibility that they might be useful lab models for the development of drugs to treat sleep disorders.

Suggested Citation

  • Ying Xu & Quasar S. Padiath & Robert E. Shapiro & Christopher R. Jones & Susan C. Wu & Noriko Saigoh & Kazumasa Saigoh & Louis J. Ptáček & Ying-Hui Fu, 2005. "Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome," Nature, Nature, vol. 434(7033), pages 640-644, March.
    • Handle: RePEc:nat:nature:v:434:y:2005:i:7033:d:10.1038_nature03453
    DOI: 10.1038/nature03453
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    Cited by:

    1. Yang An & Baoshi Yuan & Pancheng Xie & Yue Gu & Zhiwei Liu & Tao Wang & Zhihao Li & Ying Xu & Yi Liu, 2022. "Decoupling PER phosphorylation, stability and rhythmic expression from circadian clock function by abolishing PER-CK1 interaction," Nature Communications, Nature, vol. 13(1), pages 1-17, December.
    2. Rongfeng Huang & Jianghui Chen & Meiyu Zhou & Haoran Xin & Sin Man Lam & Xiaoqing Jiang & Jie Li & Fang Deng & Guanghou Shui & Zhihui Zhang & Min-Dian Li, 2023. "Multi-omics profiling reveals rhythmic liver function shaped by meal timing," Nature Communications, Nature, vol. 14(1), pages 1-18, December.
    3. Tomasz Pałka & Przemysław Pajor & Anna Katarzyna Tyka & Wanda Pilch & Agata Cebula & Aneta Teległów & Marek Strzała & Marcin Maciejczyk, 2021. "Time-of-Day Effects on Anaerobic Power and Concentration of Selected Hormones in Blind Men," IJERPH, MDPI, vol. 18(17), pages 1-12, September.
    4. Henson, Michael A., 2013. "Multicellular models of intercellular synchronization in circadian neural networks," Chaos, Solitons & Fractals, Elsevier, vol. 50(C), pages 48-64.

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