Kent Brandon, Magnani Elena, Walsh Martin J, Sadler Kirsten C
Department of Developmental and Regenerative Biology, Icahn School of Medicine at Mount Sinai, Box 1020, 1 Gustave L. Levy Place, New York, NY 10029, United States; Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, Box 1020, 1 Gustave L. Levy Place, New York, NY 10029, United States.
Department of Developmental and Regenerative Biology, Icahn School of Medicine at Mount Sinai, Box 1020, 1 Gustave L. Levy Place, New York, NY 10029, United States; Department of Medicine/Division of Liver Diseases, Icahn School of Medicine at Mount Sinai, Box 1020, 1 Gustave L. Levy Place, New York, NY 10029, United States.
Dev Biol. 2016 Apr 1;412(1):99-113. doi: 10.1016/j.ydbio.2016.01.036. Epub 2016 Feb 3.
Landmark epigenetic events underlie early embryonic development, yet how epigenetic modifiers are regulated to achieve rapid epigenome re-patterning is not known. Uhrf1 and DNA methyltransferase 1 (Dnmt1) are known to largely mediate maintenance DNA methylation and Uhrf1 is also required for both Dnmt1 localization and stability. Here, we investigate how these two key epigenetic modifiers regulate early zebrafish development and characterize the developmental consequences of disrupting their homeostatic relationship. Unlike Uhrf1 knockdown, which causes developmental arrest and death prior to gastrulation, overexpression of human UHRF1 (WT-UHRF1) caused asymmetric epiboly, inefficient gastrulation and multi-systemic defects. UHRF1 phosphorylation was previously demonstrated as essential for zebrafish embryogenesis, and we found that penetrance of the asymmetric epiboly phenotype was significantly increased in embryos injected with mRNA encoding non-phosphorylatable UHRF1 (UHRF1(S661A)). Surprisingly, both WT-UHRF1 and UHRF1(S661A) overexpression caused DNA hypomethylation. However, since other approaches that caused an equivalent degree of DNA hypomethylation did not cause the asymmetric epiboly phenotype, we conclude that bulk DNA methylation is not the primary mechanism. Instead, UHRF1(S661A) overexpression resulted in accumulation of Dnmt1 protein and the overexpression of both WT and a catalytically inactive Dnmt1 phenocopied the assymetric epiboly phenotype. Dnmt1 knockdown suppressed the phenotype caused by UHRF1(S661A) overexpression, and Uhrf1 knockdown suppressed the effect of Dnmt1 overexpression. Therefore, we conclude that the interaction between these two proteins is the mechanism underlying the gastrulation defects. This indicates that Dnmt1 stability requires UHRF1 phosphorylation and that crosstalk between the proteins is essential for the function of these two important epigenetic regulators during gastrulation.
具有里程碑意义的表观遗传事件是早期胚胎发育的基础,但目前尚不清楚表观遗传修饰因子是如何被调控以实现快速的表观基因组重新编程的。已知Uhrf1和DNA甲基转移酶1(Dnmt1)在很大程度上介导维持性DNA甲基化,并且Uhrf1对于Dnmt1的定位和稳定性也是必需的。在此,我们研究这两种关键的表观遗传修饰因子如何调控斑马鱼的早期发育,并描述破坏它们的稳态关系所导致的发育后果。与导致原肠胚形成之前发育停滞和死亡的Uhrf1基因敲低不同,人类UHRF1(WT-UHRF1)的过表达导致外包不对称、原肠胚形成效率低下和多系统缺陷。UHRF1磷酸化先前已被证明对斑马鱼胚胎发育至关重要,并且我们发现,在注射编码不可磷酸化UHRF1(UHRF1(S661A))的mRNA的胚胎中,外包不对称表型的发生率显著增加。令人惊讶的是,WT-UHRF1和UHRF1(S661A)的过表达均导致DNA低甲基化。然而,由于其他导致同等程度DNA低甲基化的方法并未引起外包不对称表型,我们得出结论,整体DNA甲基化不是主要机制。相反,UHRF1(S661A)的过表达导致Dnmt1蛋白积累,并且WT和催化失活的Dnmt1的过表达均模拟了不对称外包表型。Dnmt1基因敲低抑制了UHRF1(S661A)过表达所导致的表型,而Uhrf1基因敲低抑制了Dnmt1过表达的效应。因此,我们得出结论,这两种蛋白质之间的相互作用是原肠胚形成缺陷的潜在机制。这表明Dnmt1的稳定性需要UHRF1磷酸化,并且在原肠胚形成过程中,这两种蛋白质之间的相互作用对于这两个重要的表观遗传调节因子的功能至关重要。