Evidence map›Paper›PMID 40593758›Full record

ArticleNature communications2025

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Neftalí Vazquez, Chanjae Lee, Irene Valenzuela, Thao P Phan, Camille Derderian, Marcelo Chávez, Nancie A Mooney, Janos Demeter, Mohammad Ovais Aziz-Zanjani, Ivon Cusco and 20 more

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In one paragraph

Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
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

6 citing papers in PubMed.

  1. Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

30 authors.

Neftalí Vazquez *Department of Molecular Biosciences, University of Texas at Austin, Austin, TX, USA.
Chanjae Lee *Department of Molecular Biosciences, University of Texas at Austin, Austin, TX, USA.
Irene Valenzuela *Department of Pediatrics, Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.ORCID http://orcid.org/0000-0003-2350-6058
Thao P PhanDepartment of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA.
Camille DerderianDepartment of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0003-3727-0242
Marcelo ChávezBaxter Laboratory, Department of Microbiology & Immunology, Stanford University School of Medicine, Stanford, CA, USA.
Nancie A MooneyBaxter Laboratory, Department of Microbiology & Immunology, Stanford University School of Medicine, Stanford, CA, USA.
Janos DemeterBaxter Laboratory, Department of Microbiology & Immunology, Stanford University School of Medicine, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-7301-8055
Mohammad Ovais Aziz-ZanjaniBaxter Laboratory, Department of Microbiology & Immunology, Stanford University School of Medicine, Stanford, CA, USA.
Ivon CuscoDepartment of Clinical and Molecular Genetics, Vall d´Hebron University Hospital. European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Medicine Genetics Group, Vall d´Hebron Research Institute, Barcelona, Spain.
Marta CodinaDepartment of Clinical and Molecular Genetics, Vall d´Hebron University Hospital. European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Medicine Genetics Group, Vall d´Hebron Research Institute, Barcelona, Spain.
Núria Martínez-GilDepartment of Clinical and Molecular Genetics, Vall d´Hebron University Hospital. European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Medicine Genetics Group, Vall d´Hebron Research Institute, Barcelona, Spain.
Diana ValverdeCINBIO, University of Vigo and Research Group on Rare Diseases and Pediatric Medicine, Health Research Institute Galicia Sur (IIS Galicia Sur), SERGASUVIGO, Vigo, Spain.
Carlos SolaratCINBIO, University of Vigo and Research Group on Rare Diseases and Pediatric Medicine, Health Research Institute Galicia Sur (IIS Galicia Sur), SERGASUVIGO, Vigo, Spain.
Ange-Line BruelFunctional Unity of Innovative Diagnosis for Rare Diseases and Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.ORCID http://orcid.org/0000-0002-0526-465X
Cristel Thauvin-RobinetFunctional Unity of Innovative Diagnosis for Rare Diseases and Inserm UMR1231 team GAD, University of Burgundy, Dijon, France.ORCID http://orcid.org/0000-0002-4155-139X
Elisabeth SteichenDepartment of Pediatrics, Medical School, University of Innsbruck, Innsbruck, Austria.ORCID http://orcid.org/0000-0001-9949-7202
Isabel FilgesMedical Genetics, Institute of Medical Genetics and Pathology and Department of Clinical Research, University Hospital Basel, Basel, Switzerland.ORCID http://orcid.org/0000-0002-2149-6354
Pascal JosetMedical Genetics, Institute of Medical Genetics and Pathology and Department of Clinical Research, University Hospital Basel, Basel, Switzerland.
Julie De GeyterMedical Genetics, Institute of Medical Genetics and Pathology and Department of Clinical Research, University Hospital Basel, Basel, Switzerland.
Krishna VaidyanathanDepartment of Molecular Biosciences, University of Texas at Austin, Austin, TX, USA.
Tynan P GardnerDepartment of Molecular Biosciences, University of Texas at Austin, Austin, TX, USA.
Michinori ToriyamaDepartment of Biomedical Sciences, School of Biological and Environmental Sciences, Kwansei Gakuin University, Sanda, Hyogo, Japan.
Edward M MarcotteDepartment of Molecular Biosciences, University of Texas at Austin, Austin, TX, USA.ORCID http://orcid.org/0000-0001-8808-180X
Kevin DrewDepartment of Biological Sciences, University of Illinois at Chicago, Chicago, IL, USA.ORCID http://orcid.org/0000-0002-1260-4413
Elle C RobersonDevelopmental Biology and Pediatrics, CU Anschutz Medical Campus, Aurora, CO, USA.
Peter K JacksonBaxter Laboratory, Department of Microbiology & Immunology, Stanford University School of Medicine, Stanford, CA, USA.ORCID http://orcid.org/0000-0002-1742-2539
Jeremy F ReiterDepartment of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA, USA.ORCID http://orcid.org/0000-0002-6512-320X
Eduardo F Tizzano *Department of Clinical and Molecular Genetics, Vall d´Hebron University Hospital. European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA), Medicine Genetics Group, Vall d´Hebron Research Institute, Barcelona, Spain. eduardo.tizzano@vallhebron.cat.
John B Wallingford *Department of Molecular Biosciences, University of Texas at Austin, Austin, TX, USA. wallingford@utexas.edu.ORCID http://orcid.org/0000-0002-6280-8625

Funding

Hedgehog signaling at the cell's antenna: Smoothened and the primary ciliumR01AR054396 · NIAMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Jeremy F Reiter · 2007 to 2026
$9.0M
Project 3: Defining and targeting mechanisms of E2F transcription factor regulationP01CA254867 · NCI · STANFORD UNIVERSITY · PI Jan M Skotheim · 2022 to 2026
$8.9M
Mapping the CPLANE interactome, an extensive protein interaction network underlying human ciliopathiesR01HD085901 · NICHD · UNIVERSITY OF TEXAS AT AUSTIN · PI EDWARD M MARCOTTE, John B Wallingford · 2016 to 2026
$6.2M
Proteomics and model organism humanization to decode human geneticsR35GM122480 · NIGMS · UNIVERSITY OF TEXAS AT AUSTIN · PI EDWARD M MARCOTTE · 2017 to 2026
$5.4M
Mechanisms of Ciliary Signaling Controlling Obesity and Metabolic DiseaseR01GM121565 · NIGMS · STANFORD UNIVERSITY · PI JACKSON, PETER KENT · 2017 to 2025
$4.3M
Understanding Ciliary Functions in Mammalian DevelopmentR01HD089918 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI REITER, JEREMY F, YODER, BRADLEY K. · 2017 to 2021
$3.0M
Fatty Acid Signaling via GPCRs in Primary Cilia Controls Adipogenesis and Insulin Secretion, Regulating Obesity and DiabetesR01DK127665 · NIDDK · STANFORD UNIVERSITY · PI JACKSON, PETER KENT, KIM, SEUNG K · 2021 to 2024
$2.0M
How Centrioles Control Mammalian DevelopmentR01HL181088 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Jeremy F Reiter · 2025 to 2026
$1.1M
Discovery and characterization of novel ciliopathy protein complexesR00HD092613 · NICHD · UNIVERSITY OF ILLINOIS AT CHICAGO · PI DREW, KEVIN · 2021 to 2023
$732k
Discovery and characterization of novel ciliopathy protein complexesK99HD092613 · NICHD · UNIVERSITY OF TEXAS AT AUSTIN · PI DREW, KEVIN · 2017 to 2018
$200k
Understudied GPCRs connecting signaling in primary cilia to obesity and metabolic diseaseR03TR004209 · NCATS · STANFORD UNIVERSITY · PI JACKSON, PETER KENT · 2022 to 2022
$160k
NCATS NIH HHS R03 TR004209NCI NIH HHS P01 CA254867NHLBI NIH HHS R01 HL181088NIAMS NIH HHS R01 AR054396NICHD NIH HHS K99 HD092613NICHD NIH HHS R00 HD092613NICHD NIH HHS R01 HD085901NICHD NIH HHS R01 HD089918NIDDK NIH HHS R01 DK127665NIGMS NIH HHS R01 GM121565NIGMS NIH HHS R35 GM122480U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) R01HD085901
6 · The paper itself

Abstract

Cilia are essential organelles, and variants in genes governing ciliary function result in ciliopathic diseases. The Ciliogenesis and PLANar polarity Effectors (CPLANE) protein complex is essential for ciliogenesis, and all but one subunit of the CPLANE complex have been implicated in human ciliopathy. Here, we identify three families in which variants in the remaining CPLANE subunit CPLANE2/RSG1 also cause ciliopathy. These patients display cleft palate, tongue lobulations and polydactyly, phenotypes characteristic of Oral-Facial-Digital Syndrome. We further show that these alleles disrupt two vital steps of ciliogenesis, basal body docking and recruitment of intraflagellar transport proteins. Moreover, APMS reveals that Rsg1 binds CPLANE and the transition zone protein Fam92 in a GTP-dependent manner. Finally, we show that CPLANE is generally required for normal transition zone architecture. Our work demonstrates that CPLANE2/RSG1 is a causative gene for human ciliopathy and also sheds new light on the mechanisms of ciliary transition zone assembly.

Indexed as

CiliaCiliopathiesBasal BodiesFemaleHumansMaleMutationOrofaciodigital SyndromesPedigreePhenotype

Identifiers

PMID40593758
PMCPMC12219219

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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.