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The first branchial arch malformation(FBAM)is a rare congenital defect associated with anomalous development of the first and second branchial arches. Cause of FBAM still remains unknown, and is thought in most cases to be multifactorial, involving beth genetic and enviromental factors. Dlx2 as a member of the Dlx homeobox gene family,plays a crucial role in the development of the first branchial arch. The tissues regulated mainly by Dlx2 are coincident with the tissues mainly involved in FBAM. Dlx2 over-expression generated by electroporation transfection can disturb the migration and differentiation of cranial neural crest cells(CNCCs), which migrate to the branchial arches and in turn give rise to much of the facial skeleton and connective tissues. Furthermore, Dlx2 over-expression can be found in the first branchial arch spontaneous mutant mice. So we hypothesize that Dlx2 over-expression mutation causes FBAM due to an increase in cell-cell adhesion and inhibiting the migration of CNCC to the first branchial arch in the early stage, or migrating to an incorrect position and can't differentiate into normal tissues. What an exact role of Dlx2 over-expression in FBAM remains to be investigated and DIx2 over-expression transgenic mouse will be a nice model for further research in FBAM. Supported by Key Basic Research Project of Science and Technology Commission of Shanghai Municipality (08JC1417800, 10JC1408700), Shanghai Loading Academic Discipline Project(S30206) and Creative Team Project of Shanghai Universities.
