Munnich A
Clinique de Recherches de Génétique Médicale, INSERM U-12, Hôpital des Enfants-Malades, Paris, France.
Pathol Biol (Paris). 1988 Apr;36(4):277-83.
Whereas a great number of mutations located in the coding regions of genes have been described, genetic defects involving regulatory elements (cis-) or diffusible effectors controlling gene expression (trans-) are poorly known. Moreover, it appears that the structural defects of transcribed regions of genes have already delivered their "conceptual" message, whereas few studies of the consequences of one single gene defect on the expression of other genes and on in vivo functions are available. In the present communication, we wish to address the following issue: can we take advantage of Nature's experiments, ie. diseases, to extend our knowledge of the coordinate regulation of gene expression, via an original pathway, ie. the pathophysiological pathway? Can we select a few inborn or acquired metabolic diseases as models which could provide insight into as yet unknown factors involved in trans- regulation of gene expression?
虽然已经描述了大量位于基因编码区的突变，但涉及调控元件（顺式）或控制基因表达的可扩散效应物（反式）的遗传缺陷却鲜为人知。此外，似乎基因转录区的结构缺陷已经传递了它们的“概念性”信息，而关于单个基因缺陷对其他基因表达和体内功能影响的研究却很少。在本通讯中，我们希望解决以下问题：我们能否利用自然实验，即疾病，通过一条原始途径，即病理生理途径，来扩展我们对基因表达协同调控的认识？我们能否选择一些先天性或后天性代谢疾病作为模型，以深入了解参与基因表达反式调控的未知因素？
