Gazy Inbal, Zeevi David A, Renbaum Paul, Zeligson Sharon, Eini Lital, Bashari Dana, Smith Yoav, Lahad Amnon, Goldberg Michal, Ginsberg Doron, Levy-Lahad Ephrat
Human Genetics, Hebrew University Medical School, Jerusalem, Israel; Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel.
PLoS One. 2015 Jul 31;10(7):e0134120. doi: 10.1371/journal.pone.0134120. eCollection 2015.
Expression of RAD51, a crucial player in homologous recombination (HR) and DNA double-strand break (DSB) repair, is dysregulated in human tumors, and can contribute to genomic instability and tumor progression. To further understand RAD51 regulation we functionally characterized a long non-coding (lnc) RNA, dubbed TODRA (Transcribed in the Opposite Direction of RAD51), transcribed 69bp upstream to RAD51, in the opposite direction. We demonstrate that TODRA is an expressed transcript and that the RAD51 promoter region is bidirectional, supporting TODRA expression (7-fold higher than RAD51 in this assay, p = 0.003). TODRA overexpression in HeLa cells induced expression of TPIP, a member of the TPTE family which includes PTEN. Similar to PTEN, we found that TPIP co-activates E2F1 induction of RAD51. Analysis of E2F1's effect on the bidirectional promoter showed that E2F1 binding to the same site that promotes RAD51 expression, results in downregulation of TODRA. Moreover, TODRA overexpression induces HR in a RAD51-dependent DSB repair assay, and increases formation of DNA damage-induced RAD51-positive foci. Importantly, gene expression in breast tumors supports our finding that E2F1 oppositely regulates RAD51 and TODRA: increased RAD51 expression, which is associated with an aggressive tumor phenotype (e.g. negative correlation with positive ER (r = -0.22, p = 0.02) and positive PR status (r = -0.27, p<0.001); positive correlation with ki67 status (r = 0.36, p = 0.005) and HER2 amplification (r = 0.41, p = 0.001)), correlates as expected with lower TODRA and higher E2F1 expression. However, although E2F1 induction resulted in TPIP downregulation in cell lines, we find that TPIP expression in tumors is not reduced despite higher E2F1 expression, perhaps contributing to increased RAD51 expression. Our results identify TPIP as a novel E2F1 co-activator, suggest a similar role for other TPTEs, and indicate that the TODRA lncRNA affects RAD51 dysregulation and RAD51-dependent DSB repair in malignancy. Importantly, gene expression in breast tumors supports our finding that E2F1 oppositely regulates RAD51 and TODRA: increased RAD51 expression, which is associated with an aggressive tumor phenotype (e.g. negative correlation with positive ER (r = -0.22, p = 0.02) and positive PR status (r = -0.27, p<0.001); positive correlation with ki67 status (r = 0.36, p = 0.005) and HER2 amplification (r = 0.41, p = 0.001)), correlates as expected with lower TODRA and higher E2F1 expression. However, although E2F1 induction resulted in TPIP downregulation in cell lines, we find that TPIP expression in tumors is not reduced despite higher E2F1 expression, perhaps contributing to increased RAD51 expression. Our results identify TPIP as a novel E2F1 co-activator, suggest a similar role for other TPTEs, and indicate that the TODRA lncRNA affects RAD51 dysregulation and RAD51-dependent DSB repair in malignancy.
RAD51是同源重组(HR)和DNA双链断裂(DSB)修复中的关键因子,其表达在人类肿瘤中失调,可导致基因组不稳定和肿瘤进展。为了进一步了解RAD51的调控机制,我们对一种长链非编码(lnc)RNA进行了功能鉴定,该RNA被命名为TODRA(与RAD51反向转录),位于RAD51上游69bp处,转录方向相反。我们证明TODRA是一种表达的转录本,并且RAD51启动子区域是双向的,支持TODRA的表达(在该实验中比RAD51高7倍,p = 0.003)。HeLa细胞中TODRA的过表达诱导了TPIP的表达,TPIP是TPTE家族的成员之一,该家族包括PTEN。与PTEN类似,我们发现TPIP共同激活E2F1对RAD51的诱导。对E2F1对双向启动子作用的分析表明,E2F1与促进RAD51表达的相同位点结合,导致TODRA的下调。此外,在RAD51依赖性DSB修复实验中,TODRA的过表达诱导了HR,并增加了DNA损伤诱导的RAD51阳性灶的形成。重要的是,乳腺肿瘤中的基因表达支持了我们的发现,即E2F1对RAD51和TODRA进行反向调节:RAD51表达增加与侵袭性肿瘤表型相关(例如与ER阳性呈负相关(r = -0.22,p = 0.02)和PR阳性状态呈负相关(r = -0.27,p<0.001);与ki67状态呈正相关(r = 0.36,p = 0.005)和HER2扩增呈正相关(r = 0.41,p = 0.001)),与较低的TODRA和较高的E2F1表达如预期相关。然而,尽管E2F1的诱导导致细胞系中TPIP下调,但我们发现尽管E2F1表达较高,肿瘤中TPIP的表达并未降低,这可能导致RAD51表达增加。我们的结果确定TPIP为一种新型的E2F1共激活因子,表明其他TPTEs也有类似作用,并表明TODRA lncRNA影响恶性肿瘤中RAD51的失调和RAD51依赖性DSB修复。重要的是,乳腺肿瘤中的基因表达支持了我们的发现,即E2F1对RAD51和TODRA进行反向调节:RAD51表达增加与侵袭性肿瘤表型相关(例如与ER阳性呈负相关(r = -0.22,p = 0.02)和PR阳性状态呈负相关(r = -0.27,p<0.001);与ki67状态呈正相关(r = 0.36,p = 0.005)和HER2扩增呈正相关(r = 0.41,p = 0.001)),与较低的TODRA和较高的E2F1表达如预期相关。然而,尽管E2F1的诱导导致细胞系中TPIP下调,但我们发现尽管E2F1表达较高,肿瘤中TPIP的表达并未降低,这可能导致RAD51表达增加。我们的结果确定TPIP为一种新型的E2F1共激活因子,表明其他TPTEs也有类似作用,并表明TODRA lncRNA影响恶性肿瘤中RAD51的失调和RAD51依赖性DSB修复。