Prdm16 is required for normal palatogenesis in mice

被引：107

作者：

Bjork, Bryan C. ^{[1
]}

Turbe-Doan, Annick ^{[1
]}

Prysak, Mary ^{[1
]}

Herron, Bruce J. ^{[1
]}

Beier, David R. ^{[1
]}

机构：

[1] Harvard Univ, Sch Med, Brigham & Womens Hosp, Div Genet, Boston, MA 02115 USA

来源：

HUMAN MOLECULAR GENETICS | 2010年 / 19卷 / 05期

基金：

美国国家卫生研究院;

关键词：

PIERRE-ROBIN-SEQUENCE; MYELOID-TRANSFORMING GENE; SYNDROMIC CLEFT-PALATE; CRANIAL NEURAL CREST; PR DOMAIN; MANDIBULAR DEVELOPMENT; TRANSCRIPTIONAL CONTROL; CONSENSUS SEQUENCE; GROWTH-INHIBITION; SECONDARY PALATE;

D O I：

10.1093/hmg/ddp543

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：774 / 789

页数：16

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