What Do Animal Models Teach Us About Congenital Craniofacial Defects?

Ibarra, Beatriz; Atit, Radhika

doi:10.1007/978-981-15-2389-2_6

Cited by 3 publications

(4 citation statements)

References 116 publications

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“…Cilia play critical roles in a number of developmental and maintenance processes, including bone formation and homeostasis, as evidenced by the multitude of skeletal defects associated with human ciliopathies, 18,[124][125][126][127][128] and the animal models used to study them. 26,[129][130][131] Using the same crocc2 line examined here, we demonstrated a role for this gene in regulating the sensitivity of adult bone to respond to mechanical input, 65 consistent with known roles for cilia in bone remodeling. 26,132,133 We linked this adult phenotype to a loss of cilia overtime, which has also been documented in mouse Rootletin mutants.…”

Section: Crocc2 and Bone Formationsupporting

confidence: 76%

Zebrafish crocc2 mutants exhibit divergent craniofacial shape, misregulated variability, and aberrant cartilage morphogenesis

Packard

Gilbert

Tetrault

et al. 2023

Developmental Dynamics

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Background Phenotypic variation is of paramount importance in development, evolution, and human health; however, the molecular mechanisms that influence organ shape and shape variability are not well understood. During craniofacial development, the behavior of skeletal precursors is regulated by both biochemical and environmental inputs, and the primary cilia play critical roles in transducing both types of signals. Here, we examine a gene that encodes a key constituent of the ciliary rootlets, crocc2, and its role in cartilage morphogenesis in larval zebrafish. Results Geometric morphometric analysis of crocc2 mutants revealed altered craniofacial shapes and expanded variation. At the cellular level, we observed altered chondrocyte shapes and planar cell polarity across multiple stages in crocc2 mutants. Notably, cellular defects were specific to areas that experience direct mechanical input. Cartilage cell number, apoptosis, and bone patterning were not affected in crocc2 mutants. Conclusions Whereas “regulatory” genes are widely implicated in patterning the craniofacial skeleton, genes that encode “structural” aspects of the cell are increasingly implicated in shaping the face. Our results add crocc2 to this list, and demonstrate that it affects craniofacial geometry and canalizes phenotypic variation. We propose that it does so via mechanosensing, possibly through the ciliary rootlet. If true, this would implicate a new organelle in skeletal development and evolution.

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Section: Crocc2 and Bone Formationsupporting

confidence: 76%

Zebrafish crocc2 mutants exhibit divergent craniofacial shape, misregulated variability, and aberrant cartilage morphogenesis

Packard

Gilbert

Tetrault

et al. 2023

Developmental Dynamics

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“…Heterotopic ossification (Cohn Yakubovich et al, 2017) is a form of progressive osseous heteroplasia (POH). This form of abnormal bone growth is the opposite of FD (Ibarra and Atit, 2020). A mutation in the GNAS gene leads to progressive osseous heteroplasia, which is an autosomal dominant condition.…”

Section: Human Congenital Disordersmentioning

confidence: 99%

The current regenerative medicine approaches of craniofacial diseases: A narrative review

Tahmasebi

Mohammadi

Alam

et al. 2023

Front. Cell Dev. Biol.

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Craniofacial deformities (CFDs) develop following oncological resection, trauma, or congenital disorders. Trauma is one of the top five causes of death globally, with rates varying from country to country. They result in a non-healing composite tissue wound as they degenerate in soft or hard tissues. Approximately one-third of oral diseases are caused by gum disease. Due to the complexity of anatomical structures in the region and the variety of tissue-specific requirements, CFD treatments present many challenges. Many treatment methods for CFDs are available today, such as drugs, regenerative medicine (RM), surgery, and tissue engineering. Functional restoration of a tissue or an organ after trauma or other chronic diseases is the focus of this emerging field of science. The materials and methodologies used in craniofacial reconstruction have significantly improved in the last few years. A facial fracture requires bone preservation as much as possible, so tiny fragments are removed initially. It is possible to replace bone marrow stem cells with oral stem cells for CFDs due to their excellent potential for bone formation. This review article discusses regenerative approaches for different types of craniofacial diseases.

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“…2,3 Repair of neurocristopathies may result in significant costs associated with successive corrective surgeries. 4,5 Thus, a better understanding of the mechanisms that underlie the confinement of cranial NCC trajectories and promotion of collective cell migration would provide insights into the root causes of neurocristopathies and inform emerging stem cell-based tissue repair strategies. 6 Despite the discovery of chemical signals that attract NCCs toward peripheral targets, [7][8][9][10] several unanswered questions remain.…”

Section: Introductionmentioning

confidence: 99%

“…Failure to maintain discrete NCC migratory streams may lead to improper anterior‐to‐posterior craniofacial patterning, resulting in birth defects termed neurocristopathies 2,3 . Repair of neurocristopathies may result in significant costs associated with successive corrective surgeries 4,5 . Thus, a better understanding of the mechanisms that underlie the confinement of cranial NCC trajectories and promotion of collective cell migration would provide insights into the root causes of neurocristopathies and inform emerging stem cell‐based tissue repair strategies 6 …”

Section: Introductionmentioning

confidence: 99%

Colec12 and Trail signaling confine cranial neural crest cell trajectories and promote collective cell migration

McLennan

Giniūnaitė

Hildebrand

et al. 2023

Developmental Dynamics

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Background Collective and discrete neural crest cell (NCC) migratory streams are crucial to vertebrate head patterning. However, the factors that confine NCC trajectories and promote collective cell migration remain unclear. Results Computational simulations predicted that confinement is required only along the initial one‐third of the cranial NCC migratory pathway. This guided our study of Colec12 (Collectin‐12, a transmembrane scavenger receptor C‐type lectin) and Trail (tumor necrosis factor‐related apoptosis‐inducing ligand, CD253) which we show expressed in chick cranial NCC‐free zones. NCC trajectories are confined by Colec12 or Trail protein stripes in vitro and show significant and distinct changes in cell morphology and dynamic migratory characteristics when cocultured with either protein. Gain‐ or loss‐of‐function of either factor or in combination enhanced NCC confinement or diverted cell trajectories as observed in vivo with three‐dimensional confocal microscopy, respectively, resulting in disrupted collective migration. Conclusions These data provide evidence for Colec12 and Trail as novel NCC microenvironmental factors playing a role to confine cranial NCC trajectories and promote collective cell migration.

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What Do Animal Models Teach Us About Congenital Craniofacial Defects?

Cited by 3 publications

References 116 publications

Zebrafish crocc2 mutants exhibit divergent craniofacial shape, misregulated variability, and aberrant cartilage morphogenesis

Zebrafish crocc2 mutants exhibit divergent craniofacial shape, misregulated variability, and aberrant cartilage morphogenesis

The current regenerative medicine approaches of craniofacial diseases: A narrative review

Colec12 and Trail signaling confine cranial neural crest cell trajectories and promote collective cell migration

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