A Zebrafish Loss‐of‐Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function

@article{Nol2016AZL,
  title={A Zebrafish Loss‐of‐Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function},
  author={E. No{\"e}l and T. Momenah and Khalid Al-Dagriri and A. Al-Suwaid and Safar Al-Shahrani and H. Jiang and S. Willekers and Yara Y Oostveen and S. Chocron and A. Postma and Z. Bhuiyan and J. Bakkers},
  journal={Human Mutation},
  year={2016},
  volume={37}
}
Establishing correct left–right asymmetry during embryonic development is crucial for proper asymmetric positioning of the organs. Congenital heart defects, such as dextrocardia, transposition of the arteries, and inflow or outflow tract malformations, comprise some of the most common birth defects and may be attributed to incorrect establishment of body laterality. Here, we identify new patients with dextrocardia who have mutations in CFAP53, a coiled‐coil domain containing protein. To… Expand
Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans.
TLDR
The roles of CCDC11 and the implications of the identified mutation on left-right axial patterning in patient-derived cells and in the frog embryo as a model organism are characterized. Expand
Twisting of the heart tube during cardiac looping is a tbx5-dependent and tissue-intrinsic process
TLDR
The results establish that cardiac looping in zebrafish involves twisting of the chambers around the AV canal, which requires correct tissue patterning by Tbx5a, which is compromised in tbx 5a mutants. Expand
Zebrafish Models of Human Disease: Gaining Insight into Human Disease at ZFIN
TLDR
The improvements ZFIN has made to annotate, display, and search data related to human disease, especially zebrafish models for disease and disease-associated gene information, should be helpful to researchers and clinicians considering the use of zebra fish to study human disease. Expand
muscular dystrophies Gene Editing With CRISPR / Cas 9 RNA-Directed Nuclease
Much of the drive behind those in the field of genetic engineering over the past several decades has been to improve our understanding of normal and disease processes and therewith enable the designExpand
The centriolar satellite protein Cfap53/Ccdc11 facilitates the formation of the first zygotic microtubule organizing center in the zebrafish embryo
TLDR
It is found that zebrafish embryos lacking maternal or paternal Cfap53, a centriolar satellite protein, arrest during the first cell cycle due to a failure in proper formation of the mitotic spindle. Expand
Essential Role of CFAP53 in Sperm Flagellum Biogenesis
  • Bingbing Wu, Xiaochen Yu, +6 authors Hongbin Liu
  • Medicine
  • Frontiers in Cell and Developmental Biology
  • 2021
TLDR
The results suggest that CFAP53 is an essential protein for sperm flagellum biogenesis, and its mutations might be associated with multiple morphological abnormalities of the flagella (MMAF). Expand
Combining Zebrafish and CRISPR/Cas9: Toward a More Efficient Drug Discovery Pipeline
TLDR
Zebrafish and the CRISPR/Cas9 system, the most powerful technology for genomic editing to date, has the potential to become a valuable tool for streamlining the generation of models mimicking human disease, the validation of novel drug targets and the discovery of new therapeutics. Expand
The Cilium- and Centrosome-Associated Protein CCDC11 Is Required for Cytokinesis via Midbody Recruitment of the ESCRT- III Membrane Scission Complex Subunit CHMP2A
Introduction The coiled-coil domain-containing 11 (CCDC11) protein is a 62-kDa polypeptide that is associated with both ciliary and centriolar satellite structures (1-3). Cilia are microtubule-basedExpand
Zebrafish as a tractable model of human cardiovascular disease.
TLDR
Several features of zebrafish make them a compelling model for in vivo screening of compounds for the treatment cardiovascular disease and for studying pharmacological responses to cardiovascular drugs. Expand
A novel homozygous frameshift mutation in MNS1 associated with severe oligoasthenoteratozoospermia in humans
TLDR
A novel homozygous frameshift mutation in meiosis-specific nuclear structural 1 is identified causing OAT in a Han Chinese patient by whole-exome sequencing in an OAT proband from a consanguineous Chinese family. Expand
...
1
2
...

References

SHOWING 1-10 OF 44 REFERENCES
Mutations in CCDC11, which Encodes a Coiled‐Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left–Right Organizer
TLDR
It is demonstrated that CCDC11 has a conserved essential function in cilia of the vertebrate LR organizer, which is the first ciliary component, which has a differential localization and function in different kinds of motile cilia. Expand
Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut
TLDR
The proposed KV is a transient embryonic `organ of asymmetry' that directs LR development by establishing a directional fluid flow and genetic analysis reveals novel roles for the T-box transcription factor no tail and the Nodal signaling pathway as upstream regulators of lrdr1 expression and KV morphogenesis. Expand
Randomization of Left–Right Asymmetry due to Loss of Nodal Cilia Generating Leftward Flow of Extraembryonic Fluid in Mice Lacking KIF3B Motor Protein
TLDR
The disrupted microtubule-dependent motor of murine KIF3B is essential for the left-right determination through intraciliary transportation of materials for ciliogenesis of motile primary cilia that could produce a gradient of putative morphogen along theleft-right axis in the node. Expand
Left-right pattern of cardiac BMP4 may drive asymmetry of the heart in zebrafish.
TLDR
The genes crucial to directing cardiac asymmetry include a subset of those needed for patterning the dorsoventral axis and for notochord and ventral spinal cord development, and appear to be in the pathway by which the heart interprets lateralizing signals from the midline. Expand
Regulation of primary cilia formation and left-right patterning in zebrafish by a noncanonical Wnt signaling mediator, duboraya
TLDR
This work characterize a zebrafish gene, termed duboraya (dub), that is essential for ciliogenesis and identifies a molecular factor that links noncanonical Wnt signaling with the control of left-right axis specification, and provides an entry point for analyzing the mechanisms that regulate primary cilia formation. Expand
LRRC50, a conserved ciliary protein implicated in polycystic kidney disease.
TLDR
The first genetic vertebrate model for lrrc50 function is presented and LRRC50 is proposed to be a novel candidate gene for human cystic kidney disease, involved in regulation of microtubule-based cilia and actin-based brush border microvilli. Expand
Reverse genetic screening reveals poor correlation between morpholino-induced and mutant phenotypes in zebrafish.
TLDR
It is suggested that mutant phenotypes become the standard metric to define gene function in zebrafish, after which Morpholinos that recapitulate respective phenotypes could be reliably applied for ancillary analyses. Expand
Multiple pathways in the midline regulate concordant brain, heart and gut left-right asymmetry.
TLDR
Four phenotypic classes are identified that have different degrees of discordance among the brain, heart and gut in zebrafish embryos and help clarify the apparent disparity of mechanisms proposed to explain left-right development in different vertebrates. Expand
Left-Right Asymmetry and Kinesin Superfamily Protein KIF3A: New Insights in Determination of Laterality and Mesoderm Induction by kif3A− /− Mice Analysis
TLDR
Results suggest that KIF3A might be involved in mesodermal patterning and in turn neurogenesis, and this work aims to elucidate the function of the kif3A gene in vivo. Expand
The zebrafish nodal-related gene southpaw is required for visceral and diencephalic left-right asymmetry
TLDR
Surprisingly, despite the absence of southpaw expression in the brain, it is found that early diencephalic left-right asymmetry also requires Southpaw activity, leading to a model of how visceral organ and brain left- right asymmetry are coordinated during embryogenesis. Expand
...
1
2
3
4
5
...