Laboratory of Endocrinology and Receptor Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Proc Natl Acad Sci U S A. 2012 Sep 18;109(38):15324-9. doi: 10.1073/pnas.1204166109. Epub 2012 Sep 4.
To investigate the role of histone H3K27 demethylase UTX in embryonic stem (ES) cell differentiation, we have generated UTX knockout (KO) and enzyme-dead knock-in male ES cells. Deletion of the X-chromosome-encoded UTX gene in male ES cells markedly decreases expression of the paralogous UTY gene encoded by Y chromosome, but has no effect on global H3K27me3 level, Hox gene expression, or ES cell self-renewal. However, UTX KO cells show severe defects in mesoderm differentiation and induction of Brachyury, a transcription factor essential for mesoderm development. Surprisingly, UTX regulates mesoderm differentiation and Brachyury expression independent of its enzymatic activity. UTY, which lacks detectable demethylase activity, compensates for the loss of UTX in regulating Brachyury expression. UTX and UTY bind directly to Brachyury promoter and are required for Wnt/β-catenin signaling-induced Brachyury expression in ES cells. Interestingly, male UTX KO embryos express normal levels of UTY and survive until birth. In contrast, female UTX KO mice, which lack the UTY gene, show embryonic lethality before embryonic day 11.5. Female UTX KO embryos show severe defects in both Brachyury expression and embryonic development of mesoderm-derived posterior notochord, cardiac, and hematopoietic tissues. These results indicate that UTX controls mesoderm differentiation and Brachyury expression independent of H3K27 demethylase activity, and suggest that UTX and UTY are functionally redundant in ES cell differentiation and early embryonic development.
为了研究组蛋白 H3K27 去甲基酶 UTX 在胚胎干细胞 (ES) 分化中的作用,我们生成了 UTX 敲除 (KO) 和酶失活敲入雄性 ES 细胞。雄性 ES 细胞中 X 染色体编码的 UTX 基因缺失显著降低了 Y 染色体编码的同源基因 UTY 的表达,但对全局 H3K27me3 水平、Hox 基因表达或 ES 细胞自我更新没有影响。然而,UTX KO 细胞在中胚层分化和 Brachyury 的诱导中表现出严重缺陷,Brachyury 是中胚层发育所必需的转录因子。令人惊讶的是,UTX 调节中胚层分化和 Brachyury 表达不依赖其酶活性。缺乏可检测的去甲基酶活性的 UTY 补偿了 UTX 在调节 Brachyury 表达中的缺失。UTX 和 UTY 直接结合到 Brachyury 启动子上,并且是 Wnt/β-catenin 信号诱导 ES 细胞中 Brachyury 表达所必需的。有趣的是,雄性 UTX KO 胚胎表达正常水平的 UTY 并存活至出生。相比之下,缺乏 UTY 基因的雌性 UTX KO 小鼠在胚胎第 11.5 天之前表现出胚胎致死性。雌性 UTX KO 胚胎在 Brachyury 表达和中胚层来源的后脊索、心脏和造血组织的胚胎发育中均表现出严重缺陷。这些结果表明,UTX 独立于 H3K27 去甲基酶活性控制中胚层分化和 Brachyury 表达,并表明 UTX 和 UTY 在 ES 细胞分化和早期胚胎发育中具有功能冗余性。
Proc Natl Acad Sci U S A. 2012-9-4
J Clin Invest. 2016-4-1
Proc Natl Acad Sci U S A. 2012-7-23
Mol Cell Biol. 2020-9-28
Development. 2025-6-15
Proc Natl Acad Sci U S A. 2025-5-20
Adv Sci (Weinh). 2025-4
Biol Sex Differ. 2025-1-3
Signal Transduct Target Ther. 2024-11-18
Sci Signal. 2011-9-27
Genes Dev. 2010-12-15
Genome Res. 2010-6-14
Proc Natl Acad Sci U S A. 2010-4-19