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Cilia in Development
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Cilia in Development

A special issue of Journal of Developmental Biology (ISSN 2221-3759).

Deadline for manuscript submissions: closed (30 June 2023) | Viewed by 27990

Special Issue Editor

Dr. Aimin Liu

E-Mail Website
Guest Editor
Department of Biology, Eberly College of Science, The Pennsylvania State University, University Park, PA, USA
Interests: cilia in mouse development; hedgehog signaling; limb; CNS development
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The last two decades have seen an explosion in new discoveries in the roles of cilia in animal development and human diseases. Cilia and flagella have been described in various organisms and tissues for many years, but earlier studies mainly focused on their motile functions, such as propelling the sperm or moving mucus. It was not until around the turn of the century when the nonmotile primary cilia were shown to influence many signaling pathways essential for animal development, including hedgehog, PDGF, Wnt, Hippo pathways, and affect cancer progression. Importantly, many previously unrelated disease conditions such as polycystic kidney disease, congenital heart disease, Bardet Biedl Syndrome, Jourbet Syndrome, Merkel Syndrome, etc., were subsequently found to share a common cellular basis of abnormal cilia function, hence the birth of a new term: ciliopathies.

In this Special Issue, we hope to capture this momentum and showcase a collection of reviews and research articles reflecting the latest findings and understanding of the roles of all kinds of cilia (motile cilia, primary cilia, nodal cilia, flagella) and cilia-related molecules (proteins, non-coding RNAs, lipids, small molecules, etc) in animal development. Studies using all kinds of animal models, including invertebrate, vertebrate, and human organoids are welcome.

Dr. Aimin Liu
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Developmental Biology is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Cilia
  • Ciliopathy
  • Motile cilia
  • Nodal cilia
  • Primary cilia
  • flagella
  • basal body
  • rootlet
  • centrosome
  • centriole
  • centriolar satellite
  • axoneme
  • transition zone
  • development

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Related Special Issue

Published Papers (7 papers)

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Research

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14 pages, 3375 KiB  
Article
Genetic Interaction of Thm2 and Thm1 Shapes Postnatal Craniofacial Bone
by Erin E. Bumann, Portia Hahn Leat, Henry H. Wang, Brittany M. Hufft-Martinez, Wei Wang and Pamela V. Tran
J. Dev. Biol. 2022, 10(2), 17; https://doi.org/10.3390/jdb10020017 - 11 May 2022
Viewed by 3557
Abstract
Ciliopathies are genetic syndromes that link skeletal dysplasias to the dysfunction of primary cilia. Primary cilia are sensory organelles synthesized by intraflagellar transport (IFT)—A and B complexes, which traffic protein cargo along a microtubular core. We have reported that the deletion of the [...] Read more.
Ciliopathies are genetic syndromes that link skeletal dysplasias to the dysfunction of primary cilia. Primary cilia are sensory organelles synthesized by intraflagellar transport (IFT)—A and B complexes, which traffic protein cargo along a microtubular core. We have reported that the deletion of the IFT-A gene, Thm2, together with a null allele of its paralog, Thm1, causes a small skeleton with a small mandible or micrognathia in juvenile mice. Using micro-computed tomography, here we quantify the craniofacial defects of Thm2−/−; Thm1aln/+ triple allele mutant mice. At postnatal day 14, triple allele mutant mice exhibited micrognathia, midface hypoplasia, and a decreased facial angle due to shortened upper jaw length, premaxilla, and nasal bones, reflecting altered development of facial anterior-posterior elements. Mutant mice also showed increased palatal width, while other aspects of the facial transverse, as well as vertical dimensions, remained intact. As such, other ciliopathy-related craniofacial defects, such as cleft lip and/or palate, hypo-/hypertelorism, broad nasal bridge, craniosynostosis, and facial asymmetry, were not observed. Calvarial-derived osteoblasts of triple allele mutant mice showed reduced bone formation in vitro that was ameliorated by Hedgehog agonist, SAG. Together, these data indicate that Thm2 and Thm1 genetically interact to regulate bone formation and sculpting of the postnatal face. The triple allele mutant mice present a novel model to study craniofacial bone development. Full article
(This article belongs to the Special Issue Cilia in Development)
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11 pages, 4677 KiB  
Article
Sas-4 Colocalizes with the Ciliary Rootlets of the Drosophila Sensory Organs
by Veronica Persico, Giuliano Callaini and Maria Giovanna Riparbelli
J. Dev. Biol. 2021, 9(1), 1; https://doi.org/10.3390/jdb9010001 - 5 Jan 2021
Cited by 1 | Viewed by 2933
Abstract
The Drosophila eye displays peculiar sensory organs of unknown function, the mechanosensory bristles, that are intercalated among the adjacent ommatidia. Like the other Drosophila sensory organs, the mechanosensory bristles consist of a bipolar neuron and two tandemly aligned centrioles, the distal of which [...] Read more.
The Drosophila eye displays peculiar sensory organs of unknown function, the mechanosensory bristles, that are intercalated among the adjacent ommatidia. Like the other Drosophila sensory organs, the mechanosensory bristles consist of a bipolar neuron and two tandemly aligned centrioles, the distal of which nucleates the ciliary axoneme and represents the starting point of the ciliary rootlets. We report here that the centriole associated protein Sas-4 colocalizes with the short ciliary rootlets of the mechanosensory bristles and with the elongated rootlets of chordotonal and olfactory neurons. This finding suggests an unexpected cytoplasmic localization of Sas-4 protein and points to a new underscored role for this protein. Moreover, we observed that the sheath cells associated with the sensory neurons also display two tandemly aligned centrioles but lacks ciliary axonemes, suggesting that the dendrites of the sensory neurons are dispensable for the assembly of aligned centrioles and rootlets. Full article
(This article belongs to the Special Issue Cilia in Development)
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Review

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17 pages, 1665 KiB  
Review
Advances in Understanding the Genetic Mechanisms of Zebrafish Renal Multiciliated Cell Development
by Hannah M. Wesselman, Thanh Khoa Nguyen, Joseph M. Chambers, Bridgette E. Drummond and Rebecca A. Wingert
J. Dev. Biol. 2023, 11(1), 1; https://doi.org/10.3390/jdb11010001 - 21 Dec 2022
Cited by 9 | Viewed by 3617
Abstract
Cilia are microtubule-based organelles that project from the cell surface. In humans and other vertebrates, possession of a single cilium structure enables an assortment of cellular processes ranging from mechanosensation to fluid propulsion and locomotion. Interestingly, cells can possess a single cilium or [...] Read more.
Cilia are microtubule-based organelles that project from the cell surface. In humans and other vertebrates, possession of a single cilium structure enables an assortment of cellular processes ranging from mechanosensation to fluid propulsion and locomotion. Interestingly, cells can possess a single cilium or many more, where so-called multiciliated cells (MCCs) possess apical membrane complexes with several dozen or even hundreds of motile cilia that beat in a coordinated fashion. Development of MCCs is, therefore, integral to control fluid flow and/or cellular movement in various physiological processes. As such, MCC dysfunction is associated with numerous pathological states. Understanding MCC ontogeny can be used to address congenital birth defects as well as acquired disease conditions. Today, researchers used both in vitro and in vivo experimental models to address our knowledge gaps about MCC specification and differentiation. In this review, we summarize recent discoveries from our lab and others that have illuminated new insights regarding the genetic pathways that direct MCC ontogeny in the embryonic kidney using the power of the zebrafish animal model. Full article
(This article belongs to the Special Issue Cilia in Development)
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18 pages, 1071 KiB  
Review
Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies
by Vasiliki Karalis, Kathleen E. Donovan and Mustafa Sahin
J. Dev. Biol. 2022, 10(4), 54; https://doi.org/10.3390/jdb10040054 - 13 Dec 2022
Cited by 7 | Viewed by 4505
Abstract
Primary cilia are specialized, microtubule-based structures projecting from the surface of most mammalian cells. These organelles are thought to primarily act as signaling hubs and sensors, receiving and integrating extracellular cues. Several important signaling pathways are regulated through the primary cilium including Sonic [...] Read more.
Primary cilia are specialized, microtubule-based structures projecting from the surface of most mammalian cells. These organelles are thought to primarily act as signaling hubs and sensors, receiving and integrating extracellular cues. Several important signaling pathways are regulated through the primary cilium including Sonic Hedgehog (Shh) and Wnt signaling. Therefore, it is no surprise that mutated genes encoding defective proteins that affect primary cilia function or structure are responsible for a group of disorders collectively termed ciliopathies. The severe neurologic abnormalities observed in several ciliopathies have prompted examination of primary cilia structure and function in other brain disorders. Recently, neuronal primary cilia defects were observed in monogenic neurodevelopmental disorders that were not traditionally considered ciliopathies. The molecular mechanisms of how these genetic mutations cause primary cilia defects and how these defects contribute to the neurologic manifestations of these disorders remain poorly understood. In this review we will discuss monogenic neurodevelopmental disorders that exhibit cilia deficits and summarize findings from studies exploring the role of primary cilia in the brain to shed light into how these deficits could contribute to neurologic abnormalities. Full article
(This article belongs to the Special Issue Cilia in Development)
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12 pages, 1014 KiB  
Review
Life-Saver or Undertaker: The Relationship between Primary Cilia and Cell Death in Vertebrate Embryonic Development
by Thorsten Pfirrmann and Christoph Gerhardt
J. Dev. Biol. 2022, 10(4), 52; https://doi.org/10.3390/jdb10040052 - 12 Dec 2022
Cited by 3 | Viewed by 2793
Abstract
The development of multicellular organisms requires a tightly coordinated network of cellular processes and intercellular signalling. For more than 20 years, it has been known that primary cilia are deeply involved in the mediation of intercellular signalling and that ciliary dysfunction results in [...] Read more.
The development of multicellular organisms requires a tightly coordinated network of cellular processes and intercellular signalling. For more than 20 years, it has been known that primary cilia are deeply involved in the mediation of intercellular signalling and that ciliary dysfunction results in severe developmental defects. Cilia-mediated signalling regulates cellular processes such as proliferation, differentiation, migration, etc. Another cellular process ensuring proper embryonic development is cell death. While the effect of cilia-mediated signalling on many cellular processes has been extensively studied, the relationship between primary cilia and cell death remains largely unknown. This article provides a short review on the current knowledge about this relationship. Full article
(This article belongs to the Special Issue Cilia in Development)
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19 pages, 1623 KiB  
Review
The Role of Primary Cilia-Associated Phosphoinositide Signaling in Development
by Chuan Chen, Jinghua Hu and Kun Ling
J. Dev. Biol. 2022, 10(4), 51; https://doi.org/10.3390/jdb10040051 - 2 Dec 2022
Cited by 5 | Viewed by 4353
Abstract
Primary cilia are microtube-based organelles that extend from the cell surface and function as biochemical and mechanical extracellular signal sensors. Primary cilia coordinate a series of signaling pathways during development. Cilia dysfunction leads to a pleiotropic group of developmental disorders, termed ciliopathy. Phosphoinositides [...] Read more.
Primary cilia are microtube-based organelles that extend from the cell surface and function as biochemical and mechanical extracellular signal sensors. Primary cilia coordinate a series of signaling pathways during development. Cilia dysfunction leads to a pleiotropic group of developmental disorders, termed ciliopathy. Phosphoinositides (PIs), a group of signaling phospholipids, play a crucial role in development and tissue homeostasis by regulating membrane trafficking, cytoskeleton reorganization, and organelle identity. Accumulating evidence implicates the involvement of PI species in ciliary defects and ciliopathies. The abundance and localization of PIs in the cell are tightly regulated by the opposing actions of kinases and phosphatases, some of which are recently discovered in the context of primary cilia. Here, we review several cilium-associated PI kinases and phosphatases, including their localization along cilia, function in regulating the ciliary biology under normal conditions, as well as the connection of their disease-associated mutations with ciliopathies. Full article
(This article belongs to the Special Issue Cilia in Development)
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13 pages, 2775 KiB  
Review
Coordination of Cilia Movements in Multi-Ciliated Cells
by Masaki Arata, Fumiko Matsukawa Usami and Toshihiko Fujimori
J. Dev. Biol. 2022, 10(4), 47; https://doi.org/10.3390/jdb10040047 - 11 Nov 2022
Cited by 2 | Viewed by 4286
Abstract
Multiple motile cilia are formed at the apical surface of multi-ciliated cells in the epithelium of the oviduct or the fallopian tube, the trachea, and the ventricle of the brain. Those cilia beat unidirectionally along the tissue axis, and this provides a driving [...] Read more.
Multiple motile cilia are formed at the apical surface of multi-ciliated cells in the epithelium of the oviduct or the fallopian tube, the trachea, and the ventricle of the brain. Those cilia beat unidirectionally along the tissue axis, and this provides a driving force for directed movements of ovulated oocytes, mucus, and cerebrospinal fluid in each of these organs. Furthermore, cilia movements show temporal coordination between neighboring cilia. To establish such coordination of cilia movements, cilia need to sense and respond to various cues, including the organ’s orientation and movements of neighboring cilia. In this review, we discuss the mechanisms by which cilia movements of multi-ciliated cells are coordinated, focusing on planar cell polarity and the cytoskeleton, and highlight open questions for future research. Full article
(This article belongs to the Special Issue Cilia in Development)
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