Evidence map›Paper›PMID 40882641›Full record

ArticleStem cell reports2025

TAOK2 drives opposing cilia length deficits in 16p11.2 deletion and duplication carriers.

Sujin Byeon, Amy Ferreccio, Moira Cornell, Juan A Oses-Prieto, Aditi Deshpande, Siri Manvi, Alison Blencowe, Lauren A Weiss, Alma L Burlingame, Smita Yadav

Abstract read
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In one paragraph

Article in Stem cell reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Review
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  5. medRxiv : the preprint server for health sciences · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Sujin ByeonDepartment of Pharmacology, University of Washington, Seattle, WA 98195, USA; Graduate Program in Neuroscience, University of Washington, Seattle, WA 98195, USA.
Amy FerreccioDepartment of Pharmacology, University of Washington, Seattle, WA 98195, USA.
Moira CornellDepartment of Pharmacology, University of Washington, Seattle, WA 98195, USA.
Juan A Oses-PrietoDepartment of Pharmaceutical Chemistry, University of California, San Francisco, San Francisco, CA 94195, USA.
Aditi DeshpandeInstitute for Human Genetics, Department of Psychiatry and Behavioral Sciences, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94195, USA.
Siri ManviDepartment of Pharmacology, University of Washington, Seattle, WA 98195, USA.
Alison BlencoweDepartment of Pharmacology, University of Washington, Seattle, WA 98195, USA.
Lauren A WeissInstitute for Human Genetics, Department of Psychiatry and Behavioral Sciences, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94195, USA.
Alma L BurlingameDepartment of Pharmaceutical Chemistry, University of California, San Francisco, San Francisco, CA 94195, USA.
Smita YadavDepartment of Pharmacology, University of Washington, Seattle, WA 98195, USA; Institute of Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA 98106, USA. Electronic address: smitay@uw.edu.

Funding

TAOK2 Kinase Signaling in Human Neural Stem Cell DevelopmentR01MH121674 · NIMH · UNIVERSITY OF WASHINGTON · PI YADAV, SMITA · 2020 to 2024
$2.2M
NIMH NIH HHS R01 MH121674
6 · The paper itself

Abstract

Deletion and duplication of the 16p11.2 genomic locus are associated with opposing changes in brain size. To determine cellular mechanisms that underlie these opposing phenotypes, we performed quantitative phosphoproteomic analyses of induced pluripotent stem cells (iPSCs)-derived neural progenitor cells (NPCs) obtained from unaffected individuals, 16p11.2 deletion, and 16p11.2 duplication carriers. Differentially phosphorylated proteins were enriched in centrosomal and cilia proteins. Deletion NPCs showed longer primary cilium compared to unaffected individuals, while stunted cilia were observed in duplication NPCs. Through cellular screens in NPCs, we determined the contribution of genes within the 16p11.2 locus to cilium length. Protein kinase TAOK2 and phosphatase PPP4C were found to regulate primary cilia length. NPCs lacking TAOK2 exhibited elongated cilia, aberrant IFT88 and pericentrin (PCNT) accumulation, and were impaired in sonic hedgehog (SHH) signaling. These findings implicate aberrant cilia length in the pathophysiology of 16p11.2 copy number variation and establish TAOK2 kinase as a regulator of primary cilium length.

Indexed as

Chromosome DeletionChromosome DisordersChromosome DuplicationChromosomes, Human, Pair 16CiliaProtein Serine-Threonine KinasesAutistic DisorderDNA Copy Number VariationsFemaleHedgehog ProteinsHeterozygoteHumansInduced Pluripotent Stem CellsIntellectual DisabilityMaleNeural Stem CellsHedgehog ProteinsProtein Serine-Threonine Kinases16p11.2 CNV16p11.2 CNV-associated neurodevelopmental disordersautismneural progenitor cellsneural progenitorsprimary ciliaprimary ciliumTAOK2

Identifiers

PMID40882641
PMCPMC12447328

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Registered trials

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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.