The primary cilium: a signalling centre during vertebrate development
Open accessAbstract
The primary cilium has recently stepped into the spotlight, as a flood of data show that this organelle has crucial roles in vertebrate development and human genetic diseases. Cilia are required for the response to developmental signals, and evidence is accumulating that the primary cilium is specialized for hedgehog signal transduction. The formation of cilia, in turn, is regulated by other signalling pathways, possibly including the planar cell polarity pathway. The cilium therefore represents a nexus for signalling pathways during development. The connections between cilia and developmental signalling have begun to clarify the basis of human diseases associated with ciliary dysfunction.
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Binding of SHH to PTCH1 triggers endocytic clearance of PTCH1 from the cilium, relying on ubiquitination of the receptor by SMURF1 and SMURF2, which co-localize with PTCH1 in CAV1-positive lipid rafts and vesicles.
“Binding of SHH to its 12-transmembrane receptor Patched-1 (PTCH1) triggers endocytic clearance of PTCH1 from the cilium in a process that relies on ubiquitination of the receptor by the HECT domain E3 ubiquitin ligases SMURF1 and SMURF2, which co-localize with PTCH1 in caveolin-1 (CAV1)-positive lipid rafts and vesicles 98.”
From Cellular signalling by primary cilia in development, organ function and disease (2019) · cites this paper as [98]
In “Enrichment of Hh pathway components in cilia” (page unavailable), the paper says Ptch1 is the Hh receptor and exits the cilium upon exposure to ligand. It does not describe that exit as endocytic clearance or attribute it to SMURF1/SMURF2-mediated ubiquitination or co-localization in CAV1-positive lipid rafts and vesicles. (LLM, conf=0.90)
Experimental — accuracy not yet measuredPrimary cilia serve as key sensory organelles that detect extracellular signals and mediate intracellular signalling pathways, playing a crucial role in the function and health of neurons.
“Primary cilia serve as key sensory organelles that detect extracellular signals and mediate intracellular signalling pathways, playing a crucial role in the function and health of neurons”
From Changes of the Primary Cilia in Alzheimer's Disease Pathogenesis (2025) · cites this paper as Goetz and Anderson 2010
The Abstract describes primary cilia as necessary for responses to developmental signals, and the section on Hedgehog signaling in adult tissues reports roles in cerebellar growth and the maintenance of neural progenitors. These passages support a role in neural signaling and development, but do not establish the broader claim that cilia are crucial to the function and health of neurons generally. Page numbers are not available in our copy. (LLM, conf=0.84)
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Multiciliated Cells in Animals
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Leptin resistance is a secondary consequence of the obesity in ciliopathy mutant mice
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Primary cilia dynamics instruct tissue patterning and repair of corneal endothelium
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Actin polymerization controls cilia-mediated signaling
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Context-Dependent Regulation of Wnt Signaling through the Primary Cilium
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Regulation of ciliary membrane protein trafficking and signalling by kinesin motor proteins
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Primary ciliary protein kinase A activity in the prefrontal cortex modulates stress in mice
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Temporal ablation of the ciliary protein IFT88 alters normal brainwave patterns
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Changes of the Primary Cilia in Alzheimer's Disease Pathogenesis
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Townes-Brocks syndrome with craniosynostosis in two siblings
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- Authors
- Goetz, S. C., & Anderson, K. V.
- Corresponding author
- Anderson, Kathryn V.
- Venue
- Nature Reviews Genetics
- Published
- 2010-05
- Volume
- 11
- Issue
- 5
- Pages
- 331-344
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- PMC
- PMC3121168
- OpenAlex
- W2101266961
- Cited by
- 1,824
- References
- 167
- Citations by year
- 2026: 57 · 2025: 79 · 2024: 71 · 2023: 100 · 2022: 97 · 2021: 103 · 2020: 117 · 2019: 115 · 2018: 132 · 2017: 139 · 2016: 127 · 2015: 157 · 2014: 130 · 2013: 120 · 2012: 131
- FWCI
- 13.47
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- American Cancer Society
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke (NS044385, R01NS044385)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Hedgehog Signaling Pathway Studies
- Keywords
- primary cilia, vertebrate development, Hedgehog signaling, ciliogenesis, planar cell polarity pathway, ciliary dysfunction, ciliopathies, genetic disorders
- MeSH terms
- Animals, Cilia, Humans, Vertebrates, Signal Transduction, Kinesins, Hedgehog Proteins
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