Regneri Janine, Volff Jean-Nicolas, Schartl Manfred
Physiological Chemistry, Biocenter, University of Würzburg, Am Hubland, Würzburg, Germany.
Institut de Génomique Fonctionelle de Lyon, Ecole Normale Supérieure de Lyon, 46, allée d'Italie, 69364 Lyon cedex 07, France.
Comp Biochem Physiol C Toxicol Pharmacol. 2015 Dec;178:116-127. doi: 10.1016/j.cbpc.2015.09.001. Epub 2015 Sep 5.
Melanoma development in interspecific hybrids of Xiphophorus is induced by the overexpression of the mutationally activated receptor tyrosine kinase Xmrk in pigment cells. Based on the melanocyte specificity of the transcriptional upregulation, a pigment cell-specific promoter region was postulated for xmrk, the activity of which is controlled in healthy purebred fish by the molecularly still unidentified regulator locus R. However, as yet the xmrk promoter region is still poorly characterized. In order to contribute to a better understanding of xmrk expression regulation, we performed a functional analysis of the entire putative gene regulatory region of the oncogene using conventional plasmid-based reporter systems as well as a newly established method employing BAC-derived luciferase reporter constructs in melanoma and non-melanoma cell lines. Using the melanocyte-specific mitfa promoter as control, we could demonstrate that our in vitro system is able to reliably monitor regulation of transcription through cell type-specific regulatory sequences. We found that sequences within 200kb flanking the xmrk oncogene do not lead to any specific transcriptional activation in melanoma compared to control cells. Hence, xmrk reporter constructs fail to faithfully reproduce the endogenous transcriptional regulation of the oncogene. Our data therefore strongly indicate that the melanocyte-specific transcription of xmrk is not the consequence of pigment cell-specific cis-regulatory elements in the promoter region. This hints at additional regulatory mechanisms involved in transcriptional control of the oncogene, thereby suggesting a key role for epigenetic mechanisms in oncogenic xmrk overexpression and thereby in tumor development in Xiphophorus.
剑尾鱼属种间杂种中的黑色素瘤发育是由色素细胞中发生突变激活的受体酪氨酸激酶Xmrk的过表达所诱导的。基于转录上调的黑素细胞特异性,推测xmrk存在一个色素细胞特异性启动子区域,在健康纯种鱼中其活性由分子机制仍未明确的调控位点R控制。然而,迄今为止,xmrk启动子区域的特征仍不清楚。为了有助于更好地理解xmrk的表达调控,我们使用基于常规质粒的报告系统以及一种新建立的方法,即在黑色素瘤和非黑色素瘤细胞系中使用BAC衍生的荧光素酶报告构建体,对癌基因的整个假定基因调控区域进行了功能分析。以黑素细胞特异性的mitfa启动子作为对照,我们能够证明我们的体外系统能够通过细胞类型特异性调控序列可靠地监测转录调控。我们发现,与对照细胞相比,xmrk癌基因两侧200kb内的序列在黑色素瘤中不会导致任何特异性转录激活。因此,xmrk报告构建体无法忠实地再现癌基因的内源性转录调控。我们的数据因此强烈表明,xmrk的黑素细胞特异性转录不是启动子区域中色素细胞特异性顺式调控元件的结果。这暗示了癌基因转录控制中涉及的其他调控机制,从而表明表观遗传机制在致癌性xmrk过表达以及剑尾鱼属肿瘤发育中起关键作用。