Journal
HUMAN MOLECULAR GENETICS
Volume 19, Issue 5, Pages 774-789Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddp543
Keywords
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Funding
- National Institutes of Health [F32 HD045066, K12 DE014528, R01 DE015246, R01 HD036404]
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Transcriptional cofactors are essential to the regulation of transforming growth factor beta (TGF beta) superfamily signaling and play critical and widespread roles during embryonic development, including craniofacial development. We describe the cleft secondary palate 1 (csp1) N-ethyl-N-nitrosourea-induced mouse model of non-syndromic cleft palate (NSCP) that is caused by an intronic Prdm16 splicing mutation. Prdm16 encodes a transcriptional cofactor that regulates TGF beta signaling, and its expression pattern is consistent with a role in palate and craniofacial development. The cleft palate (CP) appears to be the result of micrognathia and failed palate shelf elevation due to physical obstruction by the tongue, resembling human Pierre Robin sequence (PRS)-like cleft secondary palate. PRDM16 should be considered a candidate for mutation in human clefting disorders, especially NSCP and PRS-like CP.
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