Identification of a prosencephalic-specific enhancer of SALL1:: Comparative genomic approach using the chick embryo
Identification of a prosencephalic-specific enhancer of SALL1:: Comparative genomic approach using the chick embryo
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DOI：
10.1203/pdr.0b013e318053423a
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发表时间：
2007-06-01
影响因子：
3.6
通讯作者：
Kosaki, Kenjiro
中科院分区：
文献类型：
--
作者：
Izumi, Kosuke;Aramaki, Michihiko;Kosaki, Kenjiro
比较基因组学是识别控制形态发生基因独特时空表达模式的调控元件的一种有前景的方法。保守的非编码基因组序列是候选调控元件。在这里，我们对 SALL1 基因中嵌套的保守非编码元件 (CNE) 进行了调查；该基因的突变会导致汤斯-布罗克斯综合症。人类和鸡基因组序列的比较揭示了 5 个 CNE。将与每个 CNE 相对应的基因组片段插入由 eGFP cDNA 和最小启动子组成的报告盒中。这些构建体在原肠胚、神经胚和咽胚阶段被电穿孔到鸡胚中。在检查的 5 个 CNE 中，1 个 443 bp CNE 表现出组织特异性增强子活性。在神经胚阶段，eGFP 信号在前脑中可见。在咽阶段，eGFP 信号被限制在前神经嵴内，前神经嵴代表调节前神经板图案的形态发生中心之一。该报告首次鉴定了 SALL1 的增强子元件。
Comparative genomics is a promising approach for identifying regulatory elements governing the unique spatio-temporal expression patterns of morphogenetic genes. Conserved noncoding genomic sequences are candidate regulatory elements. Here we performed a survey for conserved noncoding elements (CNE) nested within the SALL1 gene; mutations in this gene result in the Townes-Brocks syndrome. A comparison of the genomic sequence between humans and chicken revealed five CNE. Genomic fragments corresponding to each CNE were inserted into reporter cassettes consisting of eGFP cDNA and a minimal promoter. These constructs were electroporated into chick embryos during gastrula, neurula, and pharyngula stages. Among the five CNE that were examined, one 443 bp CNE exhibited tissue-specific enhancer activity. At the neurula stage, the eGFP signal was visualized in the prosencephalon. At the pharyngula stage, the eGFP signal was confined within the anterior neural ridge, which represents one of the morphogenetic centers regulating the patterning of the anterior neural plate. This report identifies, for the first time, an enhancer element of SALL1.