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Zebrafish as a model to study craniofacial phenotypes related to human MEF2Cmutations
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Background: MEF2C is a transcription factor with important roles in differentiation and developmental processes, in particular in endochondral bone development. An association between human MEF2C gene mutations and particular phenotypes
affecting craniofacial formation has been shown. Recent studies have shown that the zebrafish palate is under a genetic control
similar to that controlling amniotic palatal skeleton, demonstrating the utility of this organism to study craniofacial development.
Zebrafish has two mef2c genes and different lines of mutants are available. Therefore we have used zebrafish in an attempt to correlate specific MEF2C mutations with the abnormal human craniofacial phenotypes.
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Adriao, A.; Conceicao, N.; Gavaia, P. J.; Cancela, M. L. Zebrafish as a model to study craniofacial phenotypes related to human MEF2Cmutations, European Journal of Clinical Investigation, 43, Set. 2013, 102-102, 2013.