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Primary cilia as dynamic and diverse signalling hubs in development and disease

Primary cilia, antenna-like sensory organelles protruding from the surface of most vertebrate cell types, are essential for regulating signalling pathways during development and adult homeostasis. Mutations in genes affecting cilia cause an overlapping spectrum of >30 human diseases and syndromes...

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Autores principales: Mill, Pleasantine, Christensen, Søren T., Pedersen, Lotte B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7615029/
https://www.ncbi.nlm.nih.gov/pubmed/37072495
http://dx.doi.org/10.1038/s41576-023-00587-9
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author Mill, Pleasantine
Christensen, Søren T.
Pedersen, Lotte B.
author_facet Mill, Pleasantine
Christensen, Søren T.
Pedersen, Lotte B.
author_sort Mill, Pleasantine
collection PubMed
description Primary cilia, antenna-like sensory organelles protruding from the surface of most vertebrate cell types, are essential for regulating signalling pathways during development and adult homeostasis. Mutations in genes affecting cilia cause an overlapping spectrum of >30 human diseases and syndromes, the ciliopathies. Given the immense structural and functional diversity of the mammalian cilia repertoire, there is a growing disconnect between patient genotype and associated phenotypes, with variable severity and expressivity characteristic of the ciliopathies as a group. Recent technological developments are rapidly advancing our understanding of the complex mechanisms that control biogenesis and function of primary cilia across a range of cell types and are starting to tackle this diversity. Here, we examine the structural and functional diversity of primary cilia, their dynamic regulation in different cellular and developmental contexts and their disruption in disease.
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spelling pubmed-76150292023-09-08 Primary cilia as dynamic and diverse signalling hubs in development and disease Mill, Pleasantine Christensen, Søren T. Pedersen, Lotte B. Nat Rev Genet Article Primary cilia, antenna-like sensory organelles protruding from the surface of most vertebrate cell types, are essential for regulating signalling pathways during development and adult homeostasis. Mutations in genes affecting cilia cause an overlapping spectrum of >30 human diseases and syndromes, the ciliopathies. Given the immense structural and functional diversity of the mammalian cilia repertoire, there is a growing disconnect between patient genotype and associated phenotypes, with variable severity and expressivity characteristic of the ciliopathies as a group. Recent technological developments are rapidly advancing our understanding of the complex mechanisms that control biogenesis and function of primary cilia across a range of cell types and are starting to tackle this diversity. Here, we examine the structural and functional diversity of primary cilia, their dynamic regulation in different cellular and developmental contexts and their disruption in disease. 2023-07-01 2023-04-18 /pmc/articles/PMC7615029/ /pubmed/37072495 http://dx.doi.org/10.1038/s41576-023-00587-9 Text en https://creativecommons.org/licenses/by/4.0/This work is licensed under a BY 4.0 (https://creativecommons.org/licenses/by/4.0/) International license.
spellingShingle Article
Mill, Pleasantine
Christensen, Søren T.
Pedersen, Lotte B.
Primary cilia as dynamic and diverse signalling hubs in development and disease
title Primary cilia as dynamic and diverse signalling hubs in development and disease
title_full Primary cilia as dynamic and diverse signalling hubs in development and disease
title_fullStr Primary cilia as dynamic and diverse signalling hubs in development and disease
title_full_unstemmed Primary cilia as dynamic and diverse signalling hubs in development and disease
title_short Primary cilia as dynamic and diverse signalling hubs in development and disease
title_sort primary cilia as dynamic and diverse signalling hubs in development and disease
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7615029/
https://www.ncbi.nlm.nih.gov/pubmed/37072495
http://dx.doi.org/10.1038/s41576-023-00587-9
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