Evidence map›Paper›PMID 28388406›Full record

ArticleCell2017

Mutation of the Human Circadian Clock Gene CRY1 in Familial Delayed Sleep Phase Disorder.

Alina Patke, Patricia J Murphy, Onur Emre Onat, Ana C Krieger, Tayfun Özçelik, Scott S Campbell, Michael W Young

Open access · bronzeAbstract readCase Reports
In one paragraph

Article in Cell, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 196 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
196citing papers in PubMed, 3 pooled it
15.9field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

196 citing papers in PubMed, 3 syntheses or guidelines pooled it, 369 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Trial
  5. Trial
  6. Review
  7. Modified frequency-based sensitivity analysis for oscillatory system models.Journal of pharmacokinetics and pharmacodynamics · 2026
    Article
  8. Article
  9. Review
  10. Emerging genetics of sleep and circadian disorders.Current opinion in pediatrics · 2026
    Article
  11. Integrated Analysis ofBiomolecules · 2026
    Article
  12. Article
  13. Circadian Neurology.Continuum (Minneapolis, Minn.) · 2026
    Review
  14. Article
  15. Article
  16. Article
  17. Review
  18. Review
  19. Article
  20. Review

136 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors at 3 institutions in 2 countries.

Alina PatkeLaboratory of Genetics, The Rockefeller University, New York, NY 10065, USA. Electronic address: patkea@rockefeller.edu.
Patricia J MurphyLaboratory of Human Chronobiology, Weill Cornell Medical College, White Plains, NY 10605, USA.
Onur Emre OnatDepartment of Molecular Biology and Genetics, Faculty of Science, Bilkent University, Ankara 06800, Turkey.
Ana C KriegerDepartment of Medicine, Center for Sleep Medicine, Weill Cornell Medical College, New York, NY 10065, USA.
Tayfun ÖzçelikDepartment of Molecular Biology and Genetics, Faculty of Science, Bilkent University, Ankara 06800, Turkey.
Scott S CampbellLaboratory of Human Chronobiology, Weill Cornell Medical College, White Plains, NY 10605, USA.
Michael W YoungLaboratory of Genetics, The Rockefeller University, New York, NY 10065, USA. Electronic address: young@mail.rockefeller.edu.
Cornell University · USBilkent University · TRRockefeller University · US

Funding

Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6M
Transforming Translational Science and Education to Benefit Human HealthUL1TR000043 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2012 to 2015
$26.8M
Interdisciplinary Studies of Sleep and Circadian RhythmsR37NS053087 · NINDS · ROCKEFELLER UNIVERSITY · PI YOUNG, MICHAEL WARREN · 2018 to 2024
$4.1M
AN INTERDISCIPLINARY STUDY OF DELAYED SLEEP PHASE DISORDERR01NS052495 · NINDS · WEILL MEDICAL COLL OF CORNELL UNIV · PI CAMPBELL, SCOTT · 2007 to 2011
$3.0M
NCATS NIH HHS UL1 TR000043NCATS NIH HHS UL1 TR001866NINDS NIH HHS R01 NS052495NINDS NIH HHS R37 NS053087
6 · The paper itself

Abstract

Patterns of daily human activity are controlled by an intrinsic circadian clock that promotes ∼24 hr rhythms in many behavioral and physiological processes. This system is altered in delayed sleep phase disorder (DSPD), a common form of insomnia in which sleep episodes are shifted to later times misaligned with the societal norm. Here, we report a hereditary form of DSPD associated with a dominant coding variation in the core circadian clock gene CRY1, which creates a transcriptional inhibitor with enhanced affinity for circadian activator proteins Clock and Bmal1. This gain-of-function CRY1 variant causes reduced expression of key transcriptional targets and lengthens the period of circadian molecular rhythms, providing a mechanistic link to DSPD symptoms. The allele has a frequency of up to 0.6%, and reverse phenotyping of unrelated families corroborates late and/or fragmented sleep patterns in carriers, suggesting that it affects sleep behavior in a sizeable portion of the human population.

Indexed as

Circadian RhythmCryptochromesExonsFemaleGene DeletionHumansMaleMiddle AgedPedigreeSleep Disorders, Circadian RhythmCRY1 protein, humanCryptochromescircadian clockcircadian rhythmDSPDsleep

Identifiers

PMID28388406
PMCPMC5479574
OpenAlexW2605106690

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.