Geometric morphometrics (GMM) is a quantitative method used to measure and statistically test for variation(s) in shape. Yet, a standardized, unbiased method that can be used to quantitatively assess phenotypic changes in craniofacial structures resulting from these mutations is not currently available. Zebrafish have been used to systematically test the function of genes associated with birth defects in humans, and an array of conserved genetic variants/mutations already exist that display altered craniofacial development. For example, the anterior neurocranium/ethmoid plate is thought to be functionally analogous to palate development in mammals. Zebrafish craniofacial development, particularly craniofacial bone and cartilage formation, has been well characterized and is comparable to aminote craniofacial development. Zebrafish offer many advantages as a model system that make them ideal for detailed craniofacial studies - they develop externally and generate large numbers of transparent embryos, which permits unparalleled high-resolution imaging of specific cell types and structures in living vertebrates. One impediment to understanding how genetic variants promote craniofacial anomalies has been our ability to visualize the complex and coordinated cellular interactions during craniofacial development in vivo.Īnimal models, such as mouse, chicken, frog and zebrafish, provide an important avenue to gain better mechanistic and genetic insights into human craniofacial development. Many developmental syndromes, such as Stickler, Van der Woude and Coffin-Siris Syndromes (CSS), include craniofacial anomalies in addition to other congenital malformations. Failure to efficiently coordinate the specification, migration, proliferation and apoptosis of cells can lead to craniofacial malformations and structural birth defects, including cleft lip and/or palate, craniosynostosis and facial dysostosis. During the course of organ development, interactions between different tissues are critical in the regulation of cellular proliferation, migration, and apoptosis to develop the intricate features that comprise the face.
Vertebrate craniofacial development requires the complex orchestration of cellular processes, molecular signals and interactions between different cell types.
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