Section on Molecular Neuroscience, Laboratory of Neurochemistry, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
J Neuroendocrinol. 2012 Apr;24(4):528-38. doi: 10.1111/j.1365-2826.2011.02236.x.
The supraoptic nucleus (SON) is a particularly good model for the study of cell-type specific gene expression because it contains two distinct neuronal phenotypes, the oxytocin (OT) and vasopressin (AVP) synthesising magnocellular neurones (MCNs). The MCNs are found in approximately equal numbers and selectively express either the OT or the AVP gene in approximately 97% of the MCN population in the SON. An unresolved issue has been to determine what mechanisms are responsible for the highly selective regulation of the cell-type specific expression of OT and AVP genes in the MCNs. Previous attempts to address this question have used various bioinformatic and molecular approaches, which included using heterologous cell lines to study the putative cis-elements in the OT and AVP genes, and the use of OT and/or AVP transgenes in transgenic rodents. The data from all of the above studies identified a region < 0.6 kbp upstream of OT exon I and approximately 3 kb upstream of AVP exon I as being sufficient to produce cell-specific expression of the OT and AVP genes, respectively, although they failed to identify the specific cis-domains responsible for the MCN-specific gene expression. An alternative experimental approach to perform promoter deletion analysis in vivo (i.e. to use stereotaxic viral vector gene transfer into the SON to further dissect the cis-elements in the OT and AVP genes) will be described here. This in vivo method uses adeno-associated viral (AAV) vectors expressing OT-promoter deletion constructs and utilises the enhanced green fluorescent protein (EGFP) as the reporter. The AAV constructs are stereotaxically injected into the rat brain above the SON and, 2 weeks post injection, the rats are sacrificed and assayed for EGFP expression. Using this method, it has been possible to identify specific regions upstream of the transcription start site in the OT and AVP gene promoters that are responsible for conferring the cell-type specificity of the OT and AVP gene expression in the SON.
视上核(SON)是研究细胞类型特异性基因表达的特别理想的模型,因为它包含两种不同的神经元表型,即催产素(OT)和加压素(AVP)合成大细胞神经元(MCN)。MCN 的数量大致相等,并且在 SON 中的大约 97%的 MCN 群体中选择性地表达 OT 或 AVP 基因。一个尚未解决的问题是确定是什么机制负责 MCN 中 OT 和 AVP 基因的细胞类型特异性表达的高度选择性调节。以前为解决这个问题而进行的尝试使用了各种生物信息学和分子方法,包括使用异源细胞系来研究 OT 和 AVP 基因中的假定顺式元件,以及使用 OT 和/或 AVP 转基因在转基因啮齿动物中。所有上述研究的数据都确定了 OT 外显子 I 的上游 <0.6kbp 和 AVP 外显子 I 的上游约 3kbp 区域足以分别产生 OT 和 AVP 基因的细胞特异性表达,尽管它们未能确定负责 MCN 特异性基因表达的特定顺式结构域。这里将描述一种替代的实验方法,即在体内进行启动子缺失分析(即使用立体定向病毒载体基因转移到 SON 中以进一步剖析 OT 和 AVP 基因中的顺式元件)。这种体内方法使用表达 OT 启动子缺失构建体的腺相关病毒(AAV)载体,并利用增强型绿色荧光蛋白(EGFP)作为报告基因。AAV 构建体被立体定向地注射到 SON 上方的大鼠脑中,并且在注射后 2 周,大鼠被处死并检测 EGFP 表达。使用这种方法,已经可以确定 OT 和 AVP 基因启动子中转录起始位点上游的特定区域,这些区域负责赋予 SON 中 OT 和 AVP 基因表达的细胞类型特异性。