Specification of jaw identity by the Hand2 transcription factor

Noriko Funato, Hiroki Kokubo, Masataka Nakamura, Hiromi Yanagisawa, Yumiko Saga

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


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.

Original languageEnglish (US)
Article number28405
JournalScientific reports
StatePublished - Jun 22 2016

ASJC Scopus subject areas

  • General


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