Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, CA, 90033, USA.
Nat Commun. 2024 May 30;15(1):4614. doi: 10.1038/s41467-024-48285-2.
ARID1B haploinsufficiency in humans causes Coffin-Siris syndrome, associated with developmental delay, facial dysmorphism, and intellectual disability. The role of ARID1B has been widely studied in neuronal development, but whether it also regulates stem cells remains unknown. Here, we employ scRNA-seq and scATAC-seq to dissect the regulatory functions and mechanisms of ARID1B within mesenchymal stem cells (MSCs) using the mouse incisor model. We reveal that loss of Arid1b in the GLI1+ MSC lineage disturbs MSCs' quiescence and leads to their proliferation due to the ectopic activation of non-canonical Activin signaling via p-ERK. Furthermore, loss of Arid1b upregulates Bcl11b, which encodes a BAF complex subunit that modulates non-canonical Activin signaling by directly regulating the expression of activin A subunit, Inhba. Reduction of Bcl11b or non-canonical Activin signaling restores the MSC population in Arid1b mutant mice. Notably, we have identified that ARID1B suppresses Bcl11b expression via specific binding to its third intron, unveiling the direct inter-regulatory interactions among BAF subunits in MSCs. Our results demonstrate the vital role of ARID1B as an epigenetic modifier in maintaining MSC homeostasis and reveal its intricate mechanistic regulatory network in vivo, providing novel insights into the linkage between chromatin remodeling and stem cell fate determination.
ARID1B 基因杂合缺失会导致 Coffin-Siris 综合征,其特征为发育迟缓、面部畸形和智力障碍。ARID1B 在神经元发育中的作用已得到广泛研究,但它是否也调节干细胞尚不清楚。在这里,我们使用小鼠切牙模型,通过 scRNA-seq 和 scATAC-seq 来解析 ARID1B 在间充质干细胞(MSCs)中的调控功能和机制。我们揭示了 GLI1+ MSC 谱系中 Arid1b 的缺失会破坏 MSCs 的静止状态,并导致其增殖,这是由于非经典的激活素信号通过 p-ERK 发生异位激活。此外,Arid1b 的缺失会上调 Bcl11b,后者编码 BAF 复合物亚基,通过直接调节激活素 A 亚基 Inhba 的表达来调节非经典激活素信号。降低 Bcl11b 或非经典激活素信号可以恢复 Arid1b 突变小鼠中的 MSC 群体。值得注意的是,我们已经确定 ARID1B 通过与 Bcl11b 基因的第三个内含子特异性结合来抑制 Bcl11b 的表达,揭示了 BAF 亚基在 MSCs 中直接的互调控相互作用。我们的研究结果表明 ARID1B 作为一种表观遗传修饰因子在维持 MSC 稳态中的重要作用,并揭示了其在体内复杂的机制调控网络,为染色质重塑和干细胞命运决定之间的联系提供了新的见解。