Evidence map›Paper›PMID 33065013›Full record

ArticleCurrent biology : CB2021

Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait.

Guangsen Shi, Chen Yin, Zenghua Fan, Lijuan Xing, Yulia Mostovoy, Pui-Yan Kwok, Liza H Ashbrook, Andrew D Krystal, Louis J Ptáček, Ying-Hui Fu

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Current biology : CB, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.

0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
3.2field-weighted citation impact, top 7% 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

27 citing papers in PubMed, 47 citations in OpenAlex.

  1. Emerging genetics of sleep and circadian disorders.Current opinion in pediatrics · 2026
    Article
  2. Review
  3. Article
  4. Review
  5. Review
  6. Article
  7. Rare variants inProceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  8. The SIK3-N783Y mutation is associated with the human natural short sleep trait.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  9. Review
  10. Article
  11. Review
  12. Review
  13. Article
  14. Diverse roles of pontine NPS-expressing neurons in sleep regulation.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  15. Review
  16. Mutant βProceedings of the National Academy of Sciences of the United States of America · 2023
    Article
  17. Article
  18. Genetic Variant inInternational journal of molecular sciences · 2023
    Article
  19. Article
  20. Review
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

10 authors at 1 institution in 1 country.

Guangsen ShiDepartment of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.
Chen YinDepartment of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.
Zenghua FanDepartment of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.
Lijuan XingDepartment of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.
Yulia MostovoyCardiovascular Research Institute, University of California, San Francisco, San Francisco, CA 94143, USA.
Pui-Yan KwokCardiovascular Research Institute, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Dermatology, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.
Liza H AshbrookDepartment of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.
Andrew D KrystalDepartment of Psychiatry, University of California, San Francisco, San Francisco, CA 94143, USA; Weill Institute for Neuroscience, University of California, San Francisco, San Francisco, CA 94143, USA.
Louis J PtáčekDepartment of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA; Weill Institute for Neuroscience, University of California, San Francisco, San Francisco, CA 94143, USA; Kavli Institute for Fundamental Neuroscience, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address: ljp@ucsf.edu.
Ying-Hui FuDepartment of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA; Weill Institute for Neuroscience, University of California, San Francisco, San Francisco, CA 94143, USA; Kavli Institute for Fundamental Neuroscience, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address: ying-hui.fu@ucsf.edu.
University of California, San Francisco · US

Funding

Research BaseP30DK063720 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI VAISSE, CHRISTIAN · 2003 to 2019
$21.8M
Probing genetics and biology of human sleep homeostasisR01NS117929 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PTACEK, LOUIS J. · 2021 to 2025
$3.3M
Investigating the neurocircuitry of sleep duration regulationR01NS104782 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI FU, YING-HUI · 2018 to 2022
$3.0M
Probing genetics and biology of human circadian functionR01NS099333 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PTACEK, LOUIS J. · 2017 to 2021
$2.9M
Investigating Genetics of Human Natural Short SleepersR01NS072360 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI FU, YING-HUI · 2011 to 2015
$2.2M
NIDDK NIH HHS P30 DK063720NINDS NIH HHS R01 NS072360NINDS NIH HHS R01 NS099333NINDS NIH HHS R01 NS104782NINDS NIH HHS R01 NS117929
6 · The paper itself

Abstract

Sufficient and efficient sleep is crucial for our health. Natural short sleepers can sleep significantly shorter than the average population without a desire for more sleep and without any obvious negative health consequences. In searching for genetic variants underlying the short sleep trait, we found two different mutations in the same gene (metabotropic glutamate receptor 1) from two independent natural short sleep families. In vitro, both of the mutations exhibited loss of function in receptor-mediated signaling. In vivo, the mice carrying the individual mutations both demonstrated short sleep behavior. In brain slices, both of the mutations changed the electrical properties and increased excitatory synaptic transmission. These results highlight the important role of metabotropic glutamate receptor 1 in modulating sleep duration.

Indexed as

AnimalsDNA Mutational AnalysisExcitatory Postsynaptic PotentialsExome SequencingFemaleHippocampusHumansMaleMiceMice, TransgenicModels, AnimalMutationNeuronal PlasticityPatch-Clamp TechniquesPedigreePolysomnographyGRM1 protein, humanmetabotropic glutamate receptor type 1Receptors, Metabotropic Glutamateloss-of-functionmGluR1short-sleep

Identifiers

PMID33065013
PMCPMC12352508
OpenAlexW3093012900

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.