<i>CACNA1D</i> is a circadian gene and causes familial advanced sleep phase

Familial advanced sleep phase (FASP) is a heritable human sleep trait characterized by early sleep onset and offset times. We have identified five variants in five different families in the human voltage-gated calcium channel subunit alpha1 D (<i>CACNA1D</i>) that cosegregate with FASP. The variants in <i>CACNA1D</i> lead to altered channel dynamics in vitro. A mouse model of the E427K variant has a normal circadian period under constant darkness but displays altered phase shifts in response to light in the subjective night at circadian time (CT) 16 and CT22. Overall, these experiments establish <i>CACNA1D</i> as an FASP gene with altered entrainment, highlighting the ability of human genetics to uncover novel aspects of human circadian regulation.

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Publication Details

Journal
Proceedings of the National Academy of Sciences
Published
2025-06-03
DOI
https://doi.org/10.1073/pnas.2424387122
Citations
1
Primary Topic
Circadian rhythm and melatonin
Type
article
Field-Weighted Citation Impact
0.91

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article

CACNA1D is a circadian gene and causes familial advanced sleep phase

Xianlin Zou, Neha Nibber, John M. Webb, Daniel L. Minor et al.
1 citations
Proceedings of the National Academy of Sciences
Circadian rhythm and melatonin
0.91
article

CACNA1D is a circadian gene and causes familial advanced sleep phase

Xianlin Zou, Neha Nibber, John M. Webb, Daniel L. Minor, Louis J. Ptáček, Maya Yamazaki, Elizabeth Wohler, Liza Ashbrook, Mingyang Ma, Fayal Abderemane-Ali, Ying-Hui Fu, Nara Sobreira
article en
1 citations

Abstract

Familial advanced sleep phase (FASP) is a heritable human sleep trait characterized by early sleep onset and offset times. We have identified five variants in five different families in the human voltage-gated calcium channel subunit alpha1 D (<i>CACNA1D</i>) that cosegregate with FASP. The variants in <i>CACNA1D</i> lead to altered channel dynamics in vitro. A mouse model of the E427K variant has a normal circadian period under constant darkness but displays altered phase shifts in response to light in the subjective night at circadian time (CT) 16 and CT22. Overall, these experiments establish <i>CACNA1D</i> as an FASP gene with altered entrainment, highlighting the ability of human genetics to uncover novel aspects of human circadian regulation.

Proceedings of the National Academy of SciencesVol. 122(23)
QB3 (US), Johns Hopkins University (US), Lawrence Berkeley National Laboratory (US), University of California, San Francisco (US), Johns Hopkins Medicine (US)
American Heart Association, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Diabetes Center, University of California, San Francisco
Good health and well-being
Openalex Percentile: Top 27%
Circadian rhythm and melatonin
0.91
DOIOpen Access PDFOpenAlex
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<i>CACNA1D</i> is a circadian gene and causes familial advanced sleep phase — Xianlin Zou, Neha Nibber, et al. · Proceedings of the National Academy of Sciences (2025) | TGRS Research Map | TGRS