Investigating Primary Cilia during Peripheral Nervous System Formation

Yusifov, Elkhan; Dumoulin, Alexandre; Stoeckli, Esther T.

doi:10.3390/ijms22063176

Cited by 12 publications

(11 citation statements)

References 73 publications

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“…These data were in line with previous reports in the chicken spinal cord with newly differentiated interneurons in vivo and cultured commissural neurons, respectively (Toro-Tapia and Das, 2020; Yusifov et al, 2021). Moreover, the ciliation of dI1 neurons in the chicken was confirmed by immunostaining for adenylate cyclase III (ACIII), a known neuronal primary cilia marker (Fig.…”

Section: Resultssupporting

confidence: 93%

“…The most dorsal part of the spinal cord, containing mostly dI1 commissural neurons, was cut from 6-7 open-book preparations of wild-type HH25-26 embryos in cold sterile PBS as previously described (Yusifov et al, 2021). Cells were dissociated with 0.25% Trypsin in PBS (Invitrogen, cat# 15090-046), containing 0.2% DNase (Roche, cat# 101 041 590 01), at 37°C for 20 min followed by a sequence of trituration in different pre-warmed media (37°C; MEM (Gibco) with 5% FCS (Gibco), MEM only, and finally in commissural neuron medium) with fire-polished Pasteur pipettes and centrifugation at 1000 rpm for 5 min at room temperature in-between.…”

Section: Commissural Neuron Cultures In Microfluidic Chambersmentioning

confidence: 99%

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A cell-autonomous role for primary cilia in long-range commissural axon guidance

Dumoulin

Wilson

Tucker

et al. 2022

Preprint

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Ciliopathies are characterized by the absence or dysfunction of primary cilia. Despite the fact that cognitive impairments are a common feature of ciliopathies, how cilia dysfunction affects neuronal development has not been characterized in detail. Here, we show that the primary cilium is required cell-autonomously by neurons during neural circuit formation. In particular, the primary cilium is crucial during axonal pathfinding for the switch in responsiveness of axons at a choice point, or intermediate target. Utilizing animal models and in vivo, ex vivo, as well as in vitro experiments, we provide evidence for a critical role of the primary cilium in long-range axon guidance. The primary cilium on the cell body of commissural neurons transduces long-range guidance signals sensed by growth cones navigating an intermediate target. In extension of our finding that Shh is required for the rostral turn of post-crossing commissural axons, we show here that the cilium is required for a transcriptional change of axon guidance receptors, which in turn mediate the repulsive response to floorplate-derived Shh shown by post-crossing commissural axons.

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Section: Resultssupporting

confidence: 93%

Section: Commissural Neuron Cultures In Microfluidic Chambersmentioning

confidence: 99%

A cell-autonomous role for primary cilia in long-range commissural axon guidance

Dumoulin

Wilson

Tucker

et al. 2022

Preprint

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“…Indeed, it has long been observed that primary cilia are present not only in mature neurons but also in several kinds of cells, including neural crest cells, neural progenitor cells, and glial cells ( Etchevers et al, 2019 ; Park S.M. et al, 2019 ; Yusifov et al, 2021 ). Moreover, primary cilia are organelles that undergo assembly and disassembly depending on the type of cell or developmental processes.…”

Section: Introductionmentioning

confidence: 99%

Primary Cilia in Glial Cells: An Oasis in the Journey to Overcoming Neurodegenerative Diseases

Jeong

Lee

2021

Front. Neurosci.

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Many neurodegenerative diseases have been associated with defects in primary cilia, which are cellular organelles involved in diverse cellular processes and homeostasis. Several types of glial cells in both the central and peripheral nervous systems not only support the development and function of neurons but also play significant roles in the mechanisms of neurological disease. Nevertheless, most studies have focused on investigating the role of primary cilia in neurons. Accordingly, the interest of recent studies has expanded to elucidate the role of primary cilia in glial cells. Correspondingly, several reports have added to the growing evidence that most glial cells have primary cilia and that impairment of cilia leads to neurodegenerative diseases. In this review, we aimed to understand the regulatory mechanisms of cilia formation and the disease-related functions of cilia, which are common or specific to each glial cell. Moreover, we have paid close attention to the signal transduction and pathological mechanisms mediated by glia cilia in representative neurodegenerative diseases. Finally, we expect that this field of research will clarify the mechanisms involved in the formation and function of glial cilia to provide novel insights and ideas for the treatment of neurodegenerative diseases in the future.

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“…[5] The primary cilium has an important role in the CNS, but is also pivotal to the formation of the peripheral nervous system (PNS) in vivo. [6] However, PNS abnormalities in patients with JS have yet to be reported.…”

Section: Introductionmentioning

confidence: 99%

Joubert syndrome presenting bilateral peroneal neuropathies: A case report

Kim,

Jo,

Han

et al. 2024

Medicine

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Rationale: Joubert syndrome (JS) is a rare genetic disorder that presents with various neurological symptoms, primarily involving central nervous system dysfunction. Considering the etiology of JS, peripheral nervous system abnormalities cannot be excluded; however, cases of JS accompanied by peripheral nervous system abnormalities have not yet been reported. Distinct radiological findings on brain magnetic resonance imaging were considered essential for the diagnosis of JS. However, recently, cases of JS with normal or nearly normal brain morphology have been reported. To date, there is no consensus on the most appropriate diagnostic method for JS when imaging-based diagnostic approach is challenging. This report describes the case of an adult patient who exhibited bilateral peroneal neuropathies and was finally diagnosed with JS through genetic testing. Patient concerns and diagnosis: A 27-year-old man visited our outpatient clinic due to a gait disturbance that started at a very young age. The patient exhibited difficulty maintaining balance, especially when walking slowly. Oculomotor apraxia was observed on ophthalmic evaluation. During diagnostic workups, including brain imaging and direct DNA sequencing, no conclusive findings were detected. Only nerve conduction studies revealed profound bilateral peroneal neuropathies. We performed whole genome sequencing to obtain a proper diagnosis and identify the gene mutation responsible for JS. Lessons: This case represents the first instance of peripheral nerve dysfunction in JS. Further research is needed to explore the association between JS and peripheral nervous system abnormalities. Detailed genetic testing may serve as a valuable tool for diagnosing JS when no prominent abnormalities are detected in brain imaging studies.

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Investigating Primary Cilia during Peripheral Nervous System Formation

Cited by 12 publications

References 73 publications

A cell-autonomous role for primary cilia in long-range commissural axon guidance

A cell-autonomous role for primary cilia in long-range commissural axon guidance

Primary Cilia in Glial Cells: An Oasis in the Journey to Overcoming Neurodegenerative Diseases

Joubert syndrome presenting bilateral peroneal neuropathies: A case report

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