Roles of Motile and Immotile Cilia in Left-Right Symmetry Breaking

Hamada, Hiroshi

doi:10.1007/978-4-431-54628-3_7

Cited by 7 publications

(5 citation statements)

References 25 publications

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“…Motile cilia lining notably the respiratory airways, brain ventricles and fallopian tubes, move essential body fluids and gametes, with a structural composition related to that of sperm flagella in male gamete movement (Spassky and Meunier, 2017 ). Single motile nodal cilia that exist transiently in the embryonic left-right organizer function in laterality determination (Hamada, 2016 ).…”

Section: Genetic Basis Of Ciliopathies—diseases Affecting Cilia Strucmentioning

confidence: 99%

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

Wheway

Mitchison

2019

Front. Genet.

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Cilia are highly specialized cellular organelles that serve multiple functions in human development and health. Their central importance in the body is demonstrated by the occurrence of a diverse range of developmental disorders that arise from defects of cilia structure and function, caused by a range of different inherited mutations found in more than 150 different genes. Genetic analysis has rapidly advanced our understanding of the cell biological basis of ciliopathies over the past two decades, with more recent technological advances in genomics rapidly accelerating this progress. The 100,000 Genomes Project was launched in 2012 in the UK to improve diagnosis and future care for individuals affected by rare diseases like ciliopathies, through whole genome sequencing (WGS). In this review we discuss the potential promise and medical impact of WGS for ciliopathies and report on current progress of the 100,000 Genomes Project, reviewing the medical, technical and ethical challenges and opportunities that new, large scale initiatives such as this can offer.

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Section: Genetic Basis Of Ciliopathies—diseases Affecting Cilia Strucmentioning

confidence: 99%

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

Wheway

Mitchison

2019

Front. Genet.

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“…However, developmental self-organization is highly orchestrated temporally as well as spatially. For example, the prospective Turing pair of Nodal and Lefty gene products in the mouse amplify leftright asymmetry around D7.5 of mouse development [31,32], when the embryo is about 400 µm in size (EMAP eMouse Atlas Project, [33]) and long before growth saturates, mitigating against the use of quasi-asymptotic stability as opposed to Lyapunov stability.…”

Section: Introductionmentioning

confidence: 99%

History dependence and the continuum approximation breakdown: the impact of domain growth on Turing’s instability

Klika

Gaffney

2017

Proc. R. Soc. A.

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A diffusively driven instability has been hypothesized as a mechanism to drive spatial self-organization in biological systems since the seminal work of Turing. Such systems are often considered on a growing domain, but traditional theoretical studies have only treated the domain size as a bifurcation parameter, neglecting the system non-autonomy. More recently, the conditions for a diffusively driven instability on a growing domain have been determined under stringent conditions, including slow growth, a restriction on the temporal interval over which the prospect of an instability can be considered and a neglect of the impact that time evolution has on the stability properties of the homogeneous reference state from which heterogeneity emerges. Here, we firstly relax this latter assumption and observe that the conditions for the Turing instability are much more complex and depend on the history of the system in general. We proceed to relax all the above constraints, making analytical progress by focusing on specific examples. With faster growth, instabilities can grow transiently and decay, making the prediction of a prospective Turing instability much more difficult. In addition, arbitrarily high spatial frequencies can destabilize, in which case the continuum approximation is predicted to break down.

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“…In the distal region of the cilium, the backbone contains a single microtubule fiber (A tubule), which delimits the ciliary tip, a proteic zone with cell type-specific structure and function ( 20 , 21 ). In addition to this classical structure of the cilia, there is evidence showing the existence of motile 9 + 0 cilia, covering the node, which are responsible for left-right asymmetry, or sensory 9 + 2 cilia, which are observed in the inner ear cells ( 22 - 26 ).…”

Section: Ciliummentioning

confidence: 99%

Clinical and genetic heterogeneity of primary ciliopathies (Review)

2021

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ciliopathies comprise a group of complex disorders, with involvement of the majority of organs and systems. In total, >180 causal genes have been identified and, in addition to Mendelian inheritance, oligogenicity, genetic modifications, epistatic interactions and retrotransposon insertions have all been described when defining the ciliopathic phenotype. It is remarkable how the structural and functional impairment of a single, minuscule organelle may lead to the pathogenesis of highly pleiotropic diseases. Thus, combined efforts have been made to identify the genetic substratum and to determine the pathophysiological mechanism underlying the clinical presentation, in order to diagnose and classify ciliopathies. Yet, predicting the phenotype, given the intricacy of the genetic cause and overlapping clinical characteristics, represents a major challenge. In the future, advances in proteomics, cell biology and model organisms may provide new insights that could remodel the field of ciliopathies. Contents1. Introduction 2. cilium 3. ciliopathies 4. conclusions

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Roles of Motile and Immotile Cilia in Left-Right Symmetry Breaking

Cited by 7 publications

References 25 publications

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

History dependence and the continuum approximation breakdown: the impact of domain growth on Turing’s instability

Clinical and genetic heterogeneity of primary ciliopathies (Review)

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