源自短散在核元件逆转座子的组织特异性启动子驱动PLAGL1在人淋巴细胞中的双等位基因表达。
A tissue-specific promoter derived from a SINE retrotransposon drives biallelic expression of PLAGL1 in human lymphocytes.
作者信息
Smith Claire E L, Alexandraki Alexia, Cordery Sarah F, Parmar Rekha, Bonthron David T, Valleley Elizabeth M A
机构信息
School of Medicine, University of Leeds, St. James's University Hospital, Leeds, United Kingdom.
出版信息
PLoS One. 2017 Sep 28;12(9):e0185678. doi: 10.1371/journal.pone.0185678. eCollection 2017.
The imprinted gene PLAGL1 is an important regulator of apoptosis and cell cycle arrest. Loss of its expression has been implicated in tumorigenesis in a range of different cancers, and overexpression during fetal development causes transient neonatal diabetes mellitus (TNDM). PLAGL1 lies within an imprinted region of chromosome 6q24, and monoallelic expression from the major, differentially methylated promoter (P1) occurs in most human tissues. However, in peripheral blood leukocytes, the active promoter (P2) is non-imprinted and drives biallelic transcription. We report here a novel PLAGL1 promoter (P5) derived from the insertion of a primate-specific, MIR3 SINE retrotransposon. P5 is highly utilized in lymphocytes, particularly in T cells, and like P2, directs biallelic transcription. Our results show that it is important to consider P5 in relation to PLAGL1 function in T cells when investigating the dysregulation of this gene.
印记基因PLAGL1是细胞凋亡和细胞周期阻滞的重要调节因子。其表达缺失与多种不同癌症的肿瘤发生有关，而在胎儿发育过程中的过表达会导致短暂性新生儿糖尿病（TNDM）。PLAGL1位于6号染色体q24的印记区域内，在大多数人类组织中，主要的差异甲基化启动子（P1）发生单等位基因表达。然而，在外周血白细胞中，活性启动子（P2）是非印记的，并驱动双等位基因转录。我们在此报告一种源自灵长类特异性MIR3 SINE逆转座子插入的新型PLAGL1启动子（P5）。P5在淋巴细胞中高度活跃，尤其是在T细胞中，并且与P2一样，指导双等位基因转录。我们的结果表明，在研究该基因的失调时，考虑P5与PLAGL1在T细胞中的功能的关系很重要。
Zotero 插件