School of Biological Sciences, Nanyang Technological University, 60 Nanyang Drive, Singapore, 637551, Singapore.
Institute of Diabetes and Regeneration Research, Helmholtz Zentrum München, 85764, Neuherberg, Germany.
Sci Rep. 2017 Nov 6;7(1):14612. doi: 10.1038/s41598-017-14426-5.
Undifferentiated embryonic cell transcription factor 1 (Utf1) is expressed in pluripotent embryonic stem cells (ESCs) and primordial germ cells (PGCs). Utf1 expression is directly controlled by pluripotency factors Oct4 and Sox2, which form a ternary complex with the Utf1 enhancer. The Utf1 protein plays a role in chromatin organization and epigenetic control of bivalent gene expression in ESCs in vitro, where it promotes effective cell differentiation during exit from pluripotency. The function of Utf1 in PGCs in vivo, however, is not known. Here, we report that proper development of Utf1 null embryos almost entirely depends on the presence of functional Utf1 alleles in the parental germline. This indicates that Utf1's proposed epigenetic role in ESC pluripotency in vitro may be linked to intergenerational epigenetic inheritance in vivo. One component - or at least facilitator - of the relevant epigenetic mark appears to be Utf1 itself, since Utf1-driven tomato reporter and Utf1 are detected in mature germ cells. We also provide initial evidence for a reduced adult testis size in Utf1 null mice. Our findings thus point at unexpected functional links between the core ESC pluripotency factor network and epigenetic inheritance of pluripotency.
未分化胚胎细胞转录因子 1(Utf1)在多能胚胎干细胞(ESCs)和原始生殖细胞(PGCs)中表达。Utf1 的表达受多能性因子 Oct4 和 Sox2 的直接调控,它们与Utf1 增强子形成三元复合物。Utf1 蛋白在体外 ESC 中参与染色质组织和二价基因表达的表观遗传调控,促进从多能性中有效分化。然而,Utf1 在体内 PGC 中的功能尚不清楚。在这里,我们报告说,Utf1 缺失胚胎的正常发育几乎完全依赖于亲本生殖系中功能性 Utf1 等位基因的存在。这表明 Utf1 在体外 ESC 多能性中提出的表观遗传作用可能与体内跨代表观遗传遗传有关。相关表观遗传标记的一个组成部分——或者至少是促进剂——似乎是 Utf1 本身,因为在成熟生殖细胞中检测到 Utf1 驱动的番茄报告基因和 Utf1。我们还提供了 Utf1 缺失小鼠睾丸大小减小的初步证据。因此,我们的研究结果表明核心 ESC 多能性因子网络与多能性的表观遗传遗传之间存在意想不到的功能联系。