title: Prdm16 is required for normal palatogenesis in mice.
abstract: Transcriptional cofactors are essential to the regulation of transforming growth factor beta (TGFbeta) 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 TGFbeta 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.
authors.affiliation: Genetics Division, Brigham and Women's Hospital, Harvard Medical School, New Research Building, Boston, MA 02115, USA.
authors.forename: Bryan C
authors.initials: BC
authors.lastname: Bjork
authors.forename: Annick
authors.initials: A
authors.lastname: Turbe-Doan
authors.forename: Mary
authors.initials: M
authors.lastname: Prysak
authors.forename: Bruce J
authors.initials: BJ
authors.lastname: Herron
authors.forename: David R
authors.initials: DR
authors.lastname: Beier
mesh_terms: D000818:Animals; D002972:Cleft Palate / Q000196:embryology* / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D004622:Embryo, Mammalian / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D051379:Mice; D008807:Mice, Inbred BALB C; D023421:Models, Animal; D009154:Mutation; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D016212:Transforming Growth Factor beta / Q000235:genetics / Q000378:metabolism
chemical_list: D004268:DNA-Binding Proteins; C521133:Prdm16 protein, mouse; D014157:Transcription Factors; D016212:Transforming Growth Factor beta