Makabe K W, Kirchhamer C V, Britten R J, Davidson E H
Division of Biology, California Institute of Technology, Pasadena 91125, USA.
Development. 1995 Jul;121(7):1957-70. doi: 10.1242/dev.121.7.1957.
The SM50 gene encodes a minor matrix protein of the sea urchin embryo spicule. We carried out a detailed functional analysis of a cis-regulatory region of this gene, extending 440 bp upstream and 120 bp downstream of the transcription start site, that had been shown earlier to confer accurate skeletogenic expression of an injected expression vector. The distal portion of this fragment contains elements controlling amplitude of expression, while the region from -200 to +105 contains spatial control elements that position expression accurately in the skeletogenic lineages of the embryo. A systematic mutagenesis analysis of this region revealed four adjacent regulatory elements, viz two copies of a positively acting sequence (element D) that are positioned just upstream of the transcription start site; an indispensable spatial control element (element C) that is positioned downstream of the start site; and further downstream, a second positively acting sequence (element A). We then constructed a series of synthetic expression constructs. These contained oligonucleotides representing normal and mutated versions of elements D, C, and A, in various combinations. We also changed the promoter of the SM50 gene from a TATA-less to a canonical TATA box form, without any effect on function. Perfect spatial regulation was also produced by a final series of constructs that consisted entirely of heterologous enhancers from the CyIIIa gene, the SV40 early promoter, and synthetic D, C, and A elements. We demonstrate that element C exercises the primary spatial control function of the region we analyzed. We term this a 'locator' element. This differs from conventional 'tissue-specific enhancers' in that while it is essential for expression, it has no transcriptional activity on its own, and it requires other, separable, positive regulatory elements for activity. In the normal configuration these ancillary positive functions are mediated by elements A and D. Only positively acting control elements were observed in the SM50 regulatory domain throughout this analysis.
SM50基因编码海胆胚胎骨针的一种次要基质蛋白。我们对该基因的一个顺式调控区域进行了详细的功能分析,该区域在转录起始位点上游延伸440 bp,下游延伸120 bp,此前已证明其能赋予注射的表达载体精确的骨骼生成表达。该片段的远端部分包含控制表达幅度的元件,而从-200到+105的区域包含空间控制元件,这些元件能在胚胎的骨骼生成谱系中精确地定位表达。对该区域的系统诱变分析揭示了四个相邻的调控元件,即两个位于转录起始位点上游的正向作用序列(元件D)拷贝;一个位于起始位点下游的不可或缺的空间控制元件(元件C);以及更下游的第二个正向作用序列(元件A)。然后我们构建了一系列合成表达构建体。这些构建体包含以各种组合形式代表元件D、C和A的正常和突变版本的寡核苷酸。我们还将SM50基因的启动子从无TATA盒形式改为典型的TATA盒形式,但对功能没有任何影响。最后一系列构建体完全由来自CyIIIa基因的异源增强子、SV40早期启动子以及合成的D、C和A元件组成,也产生了完美的空间调控。我们证明元件C行使了我们所分析区域的主要空间控制功能。我们将其称为“定位”元件。这与传统的“组织特异性增强子”不同,因为虽然它对表达至关重要,但它自身没有转录活性,并且它需要其他可分离的正向调控元件来发挥活性。在正常配置中,这些辅助正向功能由元件A和D介导。在整个分析过程中,在SM50调控域中仅观察到正向作用的控制元件。