Tbx1, a DiGeorge syndrome candidate gene, is regulated by Sonic hedgehog during pharyngeal arch development
Tbx1, a DiGeorge syndrome candidate gene, is regulated by Sonic hedgehog during pharyngeal arch development
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DOI：
10.1006/dbio.2001.0283
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发表时间：
2001-07-01
影响因子：
2.7
通讯作者：
Srivastava, D
中科院分区：
文献类型：
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作者：
Garg, V;Yamagishi, C;Srivastava, D
上皮和邻近的神经嵴衍生间充质之间的适当相互作用对于正常咽弓发育是必要的。人类咽弓发育的破坏是 22q11.2 缺失综合征 (del22q11) 中观察到的许多颅面缺陷的根源，但造成的基因仍然未知。 Tbx1 是一种 T 盒转录因子，位于 22q11.2 基因座。发现 Tbx1 转录本位于咽内胚层和咽弓的中胚层核心，但不存在于咽弓的神经嵴衍生的间充质中。 Sonic Hedgehog (Shh) 也在咽弓中表达，是正常颅面发育所必需的。我们发现 Tbx1 表达依赖于小鼠胚胎中的 Shh 信号传导，这与它们在咽弓中的重叠表达一致。此外，当在鸡胚的选定区域中错误表达时，Shh 足以诱导 Tbx1 表达。这些研究揭示了 Shh 介导的通路在咽弓发育过程中调节 Tbx1。 (C) 2001 年学术出版社。
Appropriate interactions between the epithelium and adjacent neural crest-derived mesenchyme are necessary for normal pharyngeal arch development. Disruption of pharyngeal arch development in humans underlies many of the craniofacial defects observed in the 22q11.2 deletion syndrome (del22q11), but the genes responsible remain unknown. Tbx1 is a T-box transcription factor that lies in the 22q11.2 locus. Tbx1 transcripts were found to be localized to the pharyngeal endoderm and the mesodermal core of the pharyngeal arches, but were not present in the neural crest-derived mesenchyme of the pharyngeal arches. Sonic hedgehog (Shh) is also expressed in the pharyngeal arches and is necessary for normal craniofacial development. We found that Tbx1 expression was dependent upon Shh signaling in mouse embryos, consistent with their overlapping expression in the pharyngeal arches. Furthermore, Shh was sufficient to induce Tbx1 expression when misexpressed in selected regions of chick embryos. These studies reveal a Shh-mediated pathway that regulates Tbx1 during pharyngeal arch development. (C) 2001 Academic Press.