Nishan Umar, da Rosa-Ribeiro Rafaela, Damas-Souza Danilo Marchete, Barbosa Guilherme Oliveira, Carvalho Hernandes F
Departamento de Biologia Estrutural e Funcional, Instituto de Biologia, Universidade de Campinas (UNICAMP), Campinas, SP, Brazil.
Genet Mol Biol. 2020 Feb 14;42(4):e20180362. doi: 10.1590/1678-4685-GMB-2018-0362. eCollection 2020.
Anti-androgen therapies, including orchiectomy, are effective at promoting prostate cancer remission, but are followed by progression to the more aggressive castration-resistant prostate cancer (CRPC). Castration promotes gland and tumor shrinkage. However, prostate adaptation to androgen deprivation involves striking parallel events, all requiring changes in gene expression. We hypothesized that transcription factors (TF) and other transcription-related genes are needed to orchestrate those changes. In this work, downstream analysis using bioinformatic tools and published microarray data allowed us to identify sixty transcriptional regulators (including 10 TF) and to integrate their function in physiologically relevant networks. Functional associations revealed a connection between Arnt, Bhlhe41 and Dbp circadian rhythm genes with the Ar circuitry and a small gene network centered in Pex14, which might indicate a previously unanticipated metabolic shift. We have also identified human homologs and mapped the corresponding genes to human chromosome regions commonly affected in prostate cancer, with particular attention to the PTEN/HHEX/MXI1 cluster at 10q23-25 (frequently deleted in PCa) and to MAPK1 at 22q11.21 (delete in intermediate risk but not in high risk PCa). Twenty genes were found mutated or with copy number alterations in at least five percent of three cancer cohorts and six of them (PHOX2A, NFYC, EST2, EIF2S1, SSRP1 and PARP1) associated with impacted patient survival. These changes are specific to the adaptation to the hypoandrogen environment and seem important for the progression to CRPC when mutated.
抗雄激素疗法,包括睾丸切除术,在促进前列腺癌缓解方面是有效的,但随后会进展为更具侵袭性的去势抵抗性前列腺癌(CRPC)。去势可促进腺体和肿瘤缩小。然而,前列腺对雄激素剥夺的适应涉及显著的平行事件,所有这些都需要基因表达的改变。我们假设需要转录因子(TF)和其他转录相关基因来协调这些变化。在这项工作中,使用生物信息学工具和已发表的微阵列数据进行的下游分析使我们能够识别60个转录调节因子(包括10个TF),并将它们的功能整合到生理相关网络中。功能关联揭示了Arnt、Bhlhe41和Dbp昼夜节律基因与Ar电路之间的联系,以及一个以Pex14为中心的小基因网络,这可能表明存在先前未预料到的代谢转变。我们还鉴定了人类同源物,并将相应基因定位到前列腺癌中常见受影响的人类染色体区域,特别关注10q23 - 25处的PTEN/HHEX/MXI1簇(在前列腺癌中经常缺失)和22q11.21处的MAPK1(在中度风险前列腺癌中缺失,但在高风险前列腺癌中不缺失)。在三个癌症队列中,发现有20个基因发生突变或存在拷贝数改变,其中6个基因(PHOX2A、NFYC、EST2、EIFSS1、SSRP1和PARP1)与患者生存受影响相关。这些变化是对低雄激素环境适应所特有的,并且在发生突变时似乎对进展为CRPC很重要。