Weissman Jocelyn D, Kotekar Aparna, Barbash Zohar, Mu Jie, Singer Dinah S
Experimental Immunology Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD 20892.
bioRxiv. 2023 Apr 15:2023.04.13.536772. doi: 10.1101/2023.04.13.536772.
Transgenerational epigenetic inheritance is defined as the transmission of traits or gene expression patterns across multiple generations that do not derive from DNA alterations. The effect of multiple stress factors or metabolic changes resulting in such inheritance have been documented in plants, worms and flies and mammals. The molecular basis for epigenetic inheritance has been linked to histone and DNA modifications and non-coding RNA. In this study, we show that mutation of a promoter element, the CCAAT box, disrupts stable expression of an MHC Class I transgene, resulting in variegated expression among progeny for at least 4 generations in multiple independently derived transgenic lines. Histone modifications and RNA polII binding correlate with expression, whereas DNA methylation and nucleosome occupancy do not. Mutation of the CCAAT box abrogates NF-Y binding and results in changes to CTCF binding and DNA looping patterns across the gene that correlate with expression status from one generation to the next. These studies identify the CCAAT promoter element as a regulator of stable transgenerational epigenetic inheritance. Considering that the CCAAT box is present in 30% of eukaryotic promoters, this study could provide important insights into how fidelity of gene expression patterns is maintained through multiple generations.
跨代表观遗传继承被定义为性状或基因表达模式在多代之间的传递,这种传递并非源于DNA改变。在植物、蠕虫、果蝇和哺乳动物中,已记录到多种应激因素或代谢变化导致这种继承的效应。表观遗传继承的分子基础与组蛋白和DNA修饰以及非编码RNA有关。在本研究中,我们表明启动子元件CCAAT框的突变会破坏MHC I类转基因的稳定表达,导致多个独立衍生的转基因系中的后代至少4代出现斑驳表达。组蛋白修饰和RNA聚合酶II结合与表达相关,而DNA甲基化和核小体占据情况则不然。CCAAT框的突变消除了NF-Y结合,并导致整个基因上CTCF结合和DNA环化模式的变化,这些变化与一代到下一代的表达状态相关。这些研究将CCAAT启动子元件确定为稳定的跨代表观遗传继承的调节因子。鉴于30%的真核启动子中存在CCAAT框,本研究可为多代间如何维持基因表达模式的保真度提供重要见解。