Community Research and Development Information Service - CORDIS

SATB2 gene implicated in syndromic cleft palate

The SATB2 gene encodes a protein of 733 amino acids that has a homeodomain showing a high degree of evolutionary conservation, but the function of which remains unclear. This gene was discovered by means of an innovative research methodology whereby probands with balanced chromosomal rearrangements were found to have a disturbance of the SATB2 locus at the chromosomal break point at 2q33. This "Proof of Concept" discovery represents an innovation which has implications for craniofacial development and dysmorphology research. In situ hybridization to mouse embryos shows site and stage specific expression of SATB2 in the developing palate, and therefore it may well play a role in the pathogenesis of isolated cleft palate in humans.

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