Vasan Lakshmy, Chinchalongporn Vorapin, Saleh Fermisk, Zinyk Dawn, Ke Cao, Suresh Hamsini, Ghazale Hussein, Belfiore Lauren, Touahri Yacine, Oproescu Ana-Maria, Patel Shruti, Rozak Matthew, Amemiya Yutaka, Han Sisu, Moffat Alexandra, Black Sandra E, McLaurin JoAnne, Near Jamie, Seth Arun, Goubran Maged, Reiner Orly, Gillis Jesse, Wang Chao, Okawa Satoshi, Schuurmans Carol
Sunnybrook Research Institute, Biological Sciences Platform, Hurvitz Brain Sciences Program, 2075 Bayview Ave, Toronto, ON M4N 3M5, Canada.
Department of Laboratory Medicine and Pathobiology, Medical Sciences Building, 1 King's College Cir, University of Toronto, Toronto, ON M5S 1A8, Canada.
Development. 2025 Jan 15;152(2). doi: 10.1242/dev.202703. Epub 2025 Jan 16.
Proneural genes are conserved drivers of neurogenesis across the animal kingdom. How their functions have adapted to guide human-specific neurodevelopmental features is poorly understood. Here, we mined transcriptomic data from human fetal cortices and generated from human embryonic stem cell-derived cortical organoids (COs) to show that NEUROG1 and NEUROG2 are most highly expressed in basal neural progenitor cells, with pseudotime trajectory analyses indicating that NEUROG1-derived lineages predominate early and NEUROG2 lineages later. Using ChIP-qPCR, gene silencing and overexpression studies in COs, we show that NEUROG2 is necessary and sufficient to directly transactivate known target genes (NEUROD1, EOMES, RND2). To identify new targets, we engineered NEUROG2-mCherry knock-in human embryonic stem cells for CO generation. The mCherry-high CO cell transcriptome is enriched in extracellular matrix-associated genes, and two genes associated with human-accelerated regions: PPP1R17 and FZD8. We show that NEUROG2 binds COL1A1, COL3A1 and PPP1R17 regulatory elements, and induces their ectopic expression in COs, although NEUROG2 is not required for this expression. Neurog2 similarly induces Col3a1 and Ppp1r17 in murine P19 cells. These data are consistent with a conservation of NEUROG2 function across mammalian species.
原神经基因是整个动物界神经发生过程中保守的驱动因子。目前对于它们的功能如何适应以指导人类特有的神经发育特征还知之甚少。在这里,我们挖掘了来自人类胎儿皮质以及人类胚胎干细胞来源的皮质类器官(COs)的转录组数据,结果显示NEUROG1和NEUROG2在基底神经祖细胞中表达最高,伪时间轨迹分析表明,源自NEUROG1的谱系在早期占主导,而NEUROG2谱系在后期占主导。通过在COs中进行染色质免疫沉淀定量聚合酶链反应(ChIP-qPCR)、基因沉默和过表达研究,我们发现NEUROG2对于直接反式激活已知靶基因(NEUROD1、EOMES、RND2)是必要且充分的。为了鉴定新的靶标,我们构建了用于生成COs的NEUROG2-mCherry敲入人类胚胎干细胞。mCherry高表达的CO细胞转录组富含细胞外基质相关基因,以及两个与人类加速区域相关的基因:PPP1R17和FZD8。我们发现NEUROG2结合COL1A1、COL3A1和PPP1R17的调控元件,并在COs中诱导它们的异位表达,尽管这种表达并不需要NEUROG2。Neurog2在小鼠P19细胞中同样诱导Col3a1和Ppp1r17的表达。这些数据与NEUROG2在哺乳动物物种间功能保守一致。