Duff J, Davies P, Watt K, McEwan I J
School of Medical Sciences, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, Scotland, UK.
Biochem Soc Trans. 2006 Dec;34(Pt 6):1098-102. doi: 10.1042/BST0341098.
The AR (androgen receptor) is a ligand-activated transcription factor that mediates the action of the steroids testosterone and dihydrotestosterone. Alterations in the AR gene result in a number of clinical disorders, including: androgen-insensitivity, which leads to disruption of male development; prostate cancer; and a neuromuscular degenerative condition termed spinal bulbar muscular atrophy or Kennedy's disease. The AR gene is X-linked and the protein is coded for by eight exons, giving rise to a C-terminal LBD (ligand-binding domain; exons 4-8), linked by a hinge region (exon 4) to a Zn-finger DBD (DNA-binding domain; exons 2 and 3) and a large structurally distinct NTD (N-terminal domain; exon 1). Identification and characterization of mutations found in prostate cancer and Kennedy's disease patients have revealed the importance of structural dynamics in the mechanisms of action of receptors. Recent results from our laboratory studying genetic changes in the LBD and the structurally flexible NTD will be discussed.
雄激素受体(AR)是一种配体激活的转录因子,介导类固醇睾酮和双氢睾酮的作用。AR基因的改变会导致多种临床疾病,包括:雄激素不敏感,这会导致男性发育中断;前列腺癌;以及一种称为脊髓延髓性肌萎缩或肯尼迪病的神经肌肉退行性疾病。AR基因是X连锁的,该蛋白质由八个外显子编码,产生一个C端配体结合结构域(LBD;外显子4 - 8),通过一个铰链区(外显子4)与一个锌指DNA结合结构域(DBD;外显子2和3)以及一个结构上截然不同的大N端结构域(NTD;外显子1)相连。在前列腺癌和肯尼迪病患者中发现的突变的鉴定和表征揭示了结构动力学在受体作用机制中的重要性。将讨论我们实验室最近关于LBD和结构灵活的NTD中基因变化的研究结果。