Evidence map›Paper›PMID 34083742›Full record

ArticleCommunications biology2021

Loss of Gap Junction Delta-2 (GJD2) gene orthologs leads to refractive error in zebrafish.

Wim H Quint, Kirke C D Tadema, Erik de Vrieze, Rachel M Lukowicz, Sanne Broekman, Beerend H J Winkelman, Melanie Hoevenaars, H Martijn de Gruiter, Erwin van Wijk, Frank Schaeffel and 5 more

Open access · goldAbstract read
In one paragraph

Article in Communications biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
2.0field-weighted citation impact, top 13% 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

22 citing papers in PubMed, 28 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Article
  5. IMI-Myopia Genetics Report.Investigative ophthalmology & visual science · 2025
    Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. The Role of Retinal Dysfunction in Myopia Development.Cellular and molecular neurobiology · 2023
    Review
  12. Review
  13. Article
  14. Gap junction Delta-2b (Frontiers in cell and developmental biology · 2023
    Article
  15. Article
  16. Article
  17. Article
  18. Dawn and dusk peaks of outer segment phagocytosis, and visual cycle function require Rab28.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2022
    Article
  19. Myopia Genetics and Heredity.Children (Basel, Switzerland) · 2022
    Review
  20. The Role of GJD2(Cx36) in Refractive Error Development.Investigative ophthalmology & visual science · 2022
    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

15 authors at 6 institutions in 4 countries.

Wim H QuintDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands. w.quint@erasmusmc.nl.ORCID 0000-0002-1966-1795
Kirke C D TademaDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
Erik de VriezeDepartment of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.ORCID 0000-0003-3448-3269
Rachel M LukowiczInstitute of Neuroscience, University of Oregon, Eugene, United States.
Sanne BroekmanDepartment of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.
Beerend H J WinkelmanDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
Melanie HoevenaarsDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
H Martijn de GruiterOptical Imaging Centre, Erasmus Medical Center, Rotterdam, The Netherlands.ORCID 0000-0002-6029-0834
Erwin van WijkDepartment of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.
Frank SchaeffelInstitute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.
Magda Meester-SmoorDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
Adam C MillerInstitute of Neuroscience, University of Oregon, Eugene, United States.ORCID 0000-0001-7519-3677
Rob WillemsenDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Caroline C W KlaverDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.ORCID 0000-0002-2355-5258
Adriana I IglesiasDepartment of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands. a.iglesiasgonzalez@erasmusmc.nl.ORCID 0000-0001-5532-764X
Erasmus MC · NLRadboud University Nijmegen · NLUniversity of Oregon · USErasmus University Rotterdam · NLInstitute of Molecular and Clinical Ophthalmology Basel · CHNetherlands Institute for Neuroscience · NL

Funding

Graduate Training in Genetics Administrative Supplement - Career Curriculum DevelopmentT32GM007413 · NIGMS · UNIVERSITY OF OREGON · PI GUILLEMIN, KAREN J · 1985 to 2022
$7.8M
Molecular Mechanisms of Electrical Synapse Formation in VivoR01NS105758 · NINDS · UNIVERSITY OF OREGON · PI Adam C Miller · 2019 to 2026
$3.7M
Transgenic tools for revealing the contributions of electrical synapses to neural circuitsRF1MH120016 · NIMH · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI MILLER, ADAM C, O'BRIEN, JOHN · 2020 to 2020
$3.1M
A Single-Cell Transcriptome Atlas for Zebrafish DevelopmentR24OD026591 · OD · UNIVERSITY OF OREGON · PI KIMMEL, CHARLES B, MILLER, ADAM C · 2019 to 2022
$3.0M
NIGMS NIH HHS T32 GM007413NIH HHS R24 OD026591NIMH NIH HHS RF1 MH120016NINDS NIH HHS R01 NS105758
6 · The paper itself

Abstract

Myopia is the most common developmental disorder of juvenile eyes, and it has become an increasing cause of severe visual impairment. The GJD2 locus has been consistently associated with myopia in multiple independent genome-wide association studies. However, despite the strong genetic evidence, little is known about the functional role of GJD2 in refractive error development. Here, we find that depletion of gjd2a (Cx35.5) or gjd2b (Cx35.1) orthologs in zebrafish, cause changes in the biometry and refractive status of the eye. Our immunohistological and scRNA sequencing studies show that Cx35.5 (gjd2a) is a retinal connexin and its depletion leads to hyperopia and electrophysiological changes in the retina. These findings support a role for Cx35.5 (gjd2a) in the regulation of ocular biometry. Cx35.1 (gjd2b) has previously been identified in the retina, however, we found an additional lenticular role. Lack of Cx35.1 (gjd2b) led to a nuclear cataract that triggered axial elongation. Our results provide functional evidence of a link between gjd2 and refractive error.

Indexed as

Disease Models, AnimalMutationAnimalsCataractConnexinsEye ProteinsGene Expression ProfilingHumansMyopiaRefractive ErrorsRetinaRetinal Pigment EpitheliumRNA-SeqSingle-Cell AnalysisZebrafishZebrafish ProteinsConnexinsEye Proteinsgjd2b protein, zebrafishZebrafish Proteins

Identifiers

PMID34083742
PMCPMC8175550
OpenAlexW3165412942

What OpenQuestion holds

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LicenceCC BY
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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.