Lai John, Batra Jyotsna
Cancer Program, Institute of Health and Biomedical Innovation; Australian Prostate Cancer Research Centre-Queensland, Translational Research Institute, Queensland University of Technology, Brisbane, Queensland, Australia.
Asian J Androl. 2014 Sep-Oct;16(5):659-60. doi: 10.4103/1008-682X.133323.
Large scale exome sequencing studies have revealed regions of the genome, which contribute to the castrate resistant prostate cancer (CRPC) phenotype. Such studies have identified mutations in genes, which may have diagnostic/prognostic potential, or which may be targeted therapeutically. Two of these genes include the androgen receptor (AR) and speckle-type POZ protein (SPOP) genes. However, the findings from these exome sequencing studies can only be translated therapeutically once the functional consequences of these mutations have been determined. Here, we highlight the recent study by An et al. which investigated the functional effects of mutations in the SPOP gene that were identified in the aforementioned exome sequencing studies, particularly in the context of SPOP-mediated degradation of the AR.
大规模外显子组测序研究已经揭示了基因组中对去势抵抗性前列腺癌（CRPC）表型有影响的区域。此类研究已经鉴定出了一些基因中的突变，这些突变可能具有诊断/预后潜力，或者可能成为治疗靶点。其中两个基因包括雄激素受体（AR）和斑点型POZ蛋白（SPOP）基因。然而，只有在确定了这些突变的功能后果之后，这些外显子组测序研究的结果才能转化为治疗应用。在此，我们重点介绍An等人最近的一项研究，该研究调查了上述外显子组测序研究中鉴定出的SPOP基因突变的功能影响，特别是在SPOP介导的AR降解的背景下。
