Sokpor Godwin, Kerimoglu Cemil, Ulmke Pauline Antonie, Pham Linh, Nguyen Hoang Duy, Brand-Saberi Beate, Staiger Jochen F, Fischer Andre, Nguyen Huu Phuc, Tuoc Tran
Department of Human Genetics, Ruhr University of Bochum, 44791 Bochum, Germany.
Lincoln Medical School, University of Lincoln, Lincoln LN6 7TS, UK.
Biology (Basel). 2024 Jan 23;13(2):68. doi: 10.3390/biology13020068.
Enrichment of basal progenitors (BPs) in the developing neocortex is a central driver of cortical enlargement. The transcription factor Pax6 is known as an essential regulator in generation of BPs. H3 lysine 9 acetylation (H3K9ac) has emerged as a crucial epigenetic mechanism that activates the gene expression program required for BP pool amplification. In this current work, we applied immunohistochemistry, RNA sequencing, chromatin immunoprecipitation and sequencing, and the yeast two-hybrid assay to reveal that the BP-genic effect of H3 acetylation is dependent on Pax6 functionality in the developing mouse cortex. In the presence of Pax6, increased H3 acetylation caused BP pool expansion, leading to enhanced neurogenesis, which evoked expansion and quasi-convolution of the mouse neocortex. Interestingly, H3 acetylation activation exacerbates the BP depletion and corticogenesis reduction effect of Pax6 ablation in cortex-specific Pax6 mutants. Furthermore, we found that H3K9 acetyltransferase KAT2A/GCN5 interacts with Pax6 and potentiates Pax6-dependent transcriptional activity. This explains a genome-wide lack of H3K9ac, especially in the promoter regions of BP-genic genes, in the Pax6 mutant cortex. Together, these findings reveal a mechanistic coupling of H3 acetylation and Pax6 in orchestrating BP production and cortical expansion through the promotion of a BP gene expression program during cortical development.
发育中的新皮层中基底祖细胞(BP)的富集是皮层扩大的核心驱动因素。转录因子Pax6是已知的BP生成过程中的关键调节因子。H3赖氨酸9乙酰化(H3K9ac)已成为一种关键的表观遗传机制,可激活BP池扩增所需的基因表达程序。在当前这项工作中,我们应用免疫组织化学、RNA测序、染色质免疫沉淀和测序以及酵母双杂交试验,以揭示H3乙酰化对BP生成的影响取决于发育中小鼠皮层中Pax6的功能。在有Pax6存在的情况下,H3乙酰化增加导致BP池扩张,进而增强神经发生,引发小鼠新皮层的扩张和准卷积。有趣的是,在皮层特异性Pax6突变体中,H3乙酰化激活加剧了Pax6缺失导致的BP耗竭和皮质发生减少效应。此外,我们发现H3K9乙酰转移酶KAT2A/GCN5与Pax6相互作用,并增强Pax6依赖的转录活性。这解释了在Pax6突变体皮层中全基因组范围内缺乏H3K9ac,尤其是在BP生成基因的启动子区域。总之,这些发现揭示了H3乙酰化和Pax6在协调BP生成和皮层扩张过程中的机制耦合,这一过程是通过在皮层发育过程中促进BP基因表达程序来实现的。