Hastie Nicholas D
MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road (S), Edinburgh, EH4 2XU, UK
Development. 2017 Aug 15;144(16):2862-2872. doi: 10.1242/dev.153163.
The study of genes mutated in human disease often leads to new insights into biology as well as disease mechanisms. One such gene is Wilms' tumour 1 (), which plays multiple roles in development, tissue homeostasis and disease. In this Primer, I summarise how this multifaceted gene functions in various mammalian tissues and organs, including the kidney, gonads, heart and nervous system. This is followed by a discussion of our current understanding of the molecular mechanisms by which WT1 and its two major isoforms regulate these processes at the transcriptional and post-transcriptional levels.
对人类疾病中发生突变的基因进行研究,常常能为生物学以及疾病机制带来新的见解。其中一个这样的基因就是威尔姆斯瘤1(WT1),它在发育、组织稳态和疾病中发挥多种作用。在本入门介绍中,我总结了这个多面基因在各种哺乳动物组织和器官中的功能,包括肾脏、性腺、心脏和神经系统。接下来将讨论我们目前对WT1及其两种主要异构体在转录和转录后水平上调节这些过程的分子机制的理解。