Prdm16 对于小鼠正常腭发生是必需的。
Prdm16 is required for normal palatogenesis in mice.
机构信息
Genetics Division, Brigham and Women's Hospital, Harvard Medical School, New Research Building, Boston, MA 02115, USA.
出版信息
Hum Mol Genet. 2010 Mar 1;19(5):774-89. doi: 10.1093/hmg/ddp543. Epub 2009 Dec 11.
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.
摘要
转录共因子对于转化生长因子β（TGFβ）超家族信号的调节至关重要，并在胚胎发育过程中发挥关键和广泛的作用，包括颅面发育。我们描述了由 Prdm16 内含子剪接突变引起的非综合征性腭裂（NSCP）的 N-乙基-N-亚硝基脲诱导的 cleft 次级腭 1（csp1）小鼠模型。Prdm16 编码一种转录共因子，可调节 TGFβ 信号，其表达模式与腭和颅面发育中的作用一致。腭裂（CP）似乎是由于下颌过小和腭架升高失败导致舌头的物理阻塞所致，类似于人类 Pierre Robin 序列（PRS）样 cleft 次级腭。PRDM16 应被视为人类裂隙畸形，特别是 NSCP 和 PRS 样 CP 的突变候选者。
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