Chapter Six Cilia

Basu, Basudha; Brueckner, Martina

doi:10.1016/s0070-2153(08)00806-5

Cited by 124 publications

(67 citation statements)

References 94 publications

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“…Treatments were categorized as having effects early in embryogenesis, i.e. during the first few cell cleavages up to blastula stages, prior to when ciliary motion has been observed (Levin and Palmer, 2007), or as having effects during neurula stages when ciliary motion has been implicated in symmetry breaking (Basu and Brueckner, 2008; McGrath and Brueckner, 2003). These two groups will be referred to as EARLY treatments and CILIA treatments, respectively.…”

Section: Methodsmentioning

confidence: 99%

“…Several mechanisms have been proposed for the initiation of asymmetry and two major models have emerged. The first, the ciliary model of asymmetry, is the most popular among developmental biologists and is typically cited in textbooks (Gilbert, 2006; Hirokawa et al, 2010; Basu and Brueckner, 2008). This model has two submodels.…”

Section: Introductionmentioning

confidence: 99%

“…In both of these sub-models, the original symmetry breaking event is due to biases produced by the motion of cilia at the node. As a whole, the ciliary model is largely based on findings that mutations in ciliary proteins, such as left-right dynein (LRD), cause laterality disorders (Supp et al, 1999); in all “ciliary” mutants, inappropriate orientation of the LR axis is thought to occur because the biased fluid flow is disrupted, the calcium or morphogen gradients are not established, or because the immotile cilia lack the ability to interpret an established calcium gradient (Basu and Brueckner, 2008; Brueckner, 2001). …”

Section: Introductionmentioning

confidence: 99%

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Laterality defects are influenced by timing of treatments and animal model

Vandenberg

2012

Differentiation

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The timing of when the embryonic left-right (LR) axis is first established and the mechanisms driving this process are subjects of strong debate. While groups have focused on the role of cilia in establishing the LR axis during gastrula and neurula stages, many animals appear to orient the LR axis prior to the appearance of, or without the benefit of, motile cilia. Because of the large amount of data available in the published literature and the similarities in the type of data collected across labs, I have examined relationships between the studies that do and do not implicate cilia, the choice of animal model, the kinds of LR patterning defects observed, and the penetrance of LR phenotypes. I found that treatments affecting cilia structure and motility had a higher penetrance for both altered gene expression and improper organ placement compared to treatments that affect processes in early cleavage stage embryos. I also found differences in penetrance that could be attributed to the animal models used; the mouse is highly prone to LR randomization. Additionally, the data were examined to address whether gene expression can be used to predict randomized organ placement. Using regression analysis, gene expression was found to be predictive of organ placement in frogs, but much less so in the other animals examined. Together, these results challenge previous ideas about the conservation of LR mechanisms, with the mouse model being significantly different from fish, frogs and chick in almost every aspect examined. Additionally, this analysis indicates that there may be missing pieces in the molecular pathways that dictate how genetic information becomes organ positional information in vertebrates; these gaps will be important for future studies to identify, as LR asymmetry is not only a fundamentally fascinating aspect of development but also of considerable biomedical importance.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Laterality defects are influenced by timing of treatments and animal model

Vandenberg

2012

Differentiation

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“…Almost 20% of the genes known to control LR development have a role in the biogenesis and function of the cilium 8 . Primary cilia are found on almost all cell types at some time, and they are central to the development of LR asymmetry.…”

mentioning

confidence: 99%

Impact of Genetic Diagnosis on Clinical Management of Patients With Congenital Heart Disease

Brueckner

2012

Circulation

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“…Situs inversus is additionally observed in half of the PCD patients, possibly resulting from lack of ciliary motility in embryonic Hensen's node, which is responsible for the unidirectional fluid flow and thereby establishes left-right asymmetry [94]. The prevalence of PCD at birth is 1/10,000 to 1/20,000 [95].…”

Section: Primary Ciliary Dyskinesia (Pcd)mentioning

confidence: 99%

Ultrastructure of Spermatozoa from Infertility Patients

Брагина¹,

Bocharova²

2018

Spermatozoa - Facts and Perspectives

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Standard examination of human semen currently remains a main test for examination of male fertility disorders. Although parameters of sperm quality in fertile men are generally higher than in sterile ones, there is a substantial overlap between the two populations, indicating that other important factors affect fertility, but are not assessed in conventional assay. Currently, tests determining the functional properties of sperm have been intensively developed. This review considers an electron microscopic examination of sperm, which assesses the structure and function of the sperm nuclear, penetration and motor apparatus. The detection of sperm chromatin structure can help to understand the causes of early embryonic malformation. Genetically caused and functional disorders of the structure and function of spermatozoa are discussed. Indications for electron microscopic examination of spermatozoa in fertility disorders are given.

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Chapter Six Cilia

Cited by 124 publications

References 94 publications

Laterality defects are influenced by timing of treatments and animal model

Laterality defects are influenced by timing of treatments and animal model

Impact of Genetic Diagnosis on Clinical Management of Patients With Congenital Heart Disease

Ultrastructure of Spermatozoa from Infertility Patients

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