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Publication : Specification of jaw identity by the Hand2 transcription factor.

First Author  Funato N Year  2016
Journal  Sci Rep Volume  6
Pages  28405 PubMed ID  27329940
Mgi Jnum  J:259576 Mgi Id  MGI:6102048
Doi  10.1038/srep28405 Citation  Funato N, et al. (2016) Specification of jaw identity by the Hand2 transcription factor. Sci Rep 6:28405
abstractText  Acquisition of the lower jaw (mandible) was evolutionarily important for jawed vertebrates. In humans, syndromic craniofacial malformations often accompany jaw anomalies. The basic helix-loop-helix transcription factor Hand2, which is conserved among jawed vertebrates, is expressed in the neural crest in the mandibular process but not in the maxillary process of the first branchial arch. Here, we provide evidence that Hand2 is sufficient for upper jaw (maxilla)-to-mandible transformation by regulating the expression of homeobox transcription factors in mice. Altered Hand2 expression in the neural crest transformed the maxillae into mandibles with duplicated Meckel''s cartilage, which resulted in an absence of the secondary palate. In Hand2-overexpressing mutants, non-Hox homeobox transcription factors were dysregulated. These results suggest that Hand2 regulates mandibular development through downstream genes of Hand2 and is therefore a major determinant of jaw identity. Hand2 may have influenced the evolutionary acquisition of the mandible and secondary palate.
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