Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Shanghai 201102, China; Department of Pediatrics, Brain Tumor Center, Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Shanghai 201102, China; Department of Pediatrics, Brain Tumor Center, Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Dev Cell. 2018 Jun 18;45(6):753-768.e8. doi: 10.1016/j.devcel.2018.05.022.
Disruptive mutations in chromatin remodeler CHD8 cause autism spectrum disorders, exhibiting widespread white matter abnormalities; however, the underlying mechanisms remain elusive. We show that cell-type specific Chd8 deletion in oligodendrocyte progenitors, but not in neurons, results in myelination defects, revealing a cell-intrinsic dependence on CHD8 for oligodendrocyte lineage development, myelination and post-injury remyelination. CHD8 activates expression of BRG1-associated SWI/SNF complexes that in turn activate CHD7, thus initiating a successive chromatin remodeling cascade that orchestrates oligodendrocyte lineage progression. Genomic occupancy analyses reveal that CHD8 establishes an accessible chromatin landscape, and recruits MLL/KMT2 histone methyltransferase complexes distinctively around proximal promoters to promote oligodendrocyte differentiation. Inhibition of histone demethylase activity partially rescues myelination defects of CHD8-deficient mutants. Our data indicate that CHD8 exhibits a dual function through inducing a cascade of chromatin reprogramming and recruiting H3K4 histone methyltransferases to establish oligodendrocyte identity, suggesting potential strategies of therapeutic intervention for CHD8-associated white matter defects.
染色质重塑因子 CHD8 的功能获得性突变会导致自闭症谱系障碍,表现为广泛的白质异常;然而,其潜在的机制仍不清楚。我们发现,少突胶质前体细胞特异性的 Chd8 缺失会导致髓鞘形成缺陷,但神经元中 Chd8 的缺失不会导致这种缺陷,这表明 CHD8 对少突胶质细胞谱系的发育、髓鞘形成和损伤后髓鞘的再形成具有细胞内在的依赖性。CHD8 激活了 BRG1 相关的 SWI/SNF 复合物的表达,而后者又激活了 CHD7,从而启动了一个连续的染色质重塑级联反应,协调少突胶质细胞谱系的进展。基因组占据分析显示,CHD8 建立了一个可及的染色质景观,并在近端启动子周围募集了独特的 MLL/KMT2 组蛋白甲基转移酶复合物,以促进少突胶质细胞的分化。组蛋白去甲基化酶活性的抑制部分挽救了 CHD8 缺陷突变体的髓鞘形成缺陷。我们的数据表明,CHD8 通过诱导染色质重编程级联反应和募集 H3K4 组蛋白甲基转移酶来建立少突胶质细胞的特性,从而表现出双重功能,这为 CHD8 相关的白质缺陷的治疗干预提供了潜在的策略。