BAF45D regulates spinal cord neural stem/progenitor cell fate through the SMAD-PAX6 axis

作者：Chen, Xueying; Hu, Xiujuan; Jiang, Jing; Tao, Jie; Liu, Lihua; Fang, Shengyun; Shen, Yuxian; Hu, Qingsong^*; Liu, Chao^*

来源：Genes & Diseases, 2023, 10(2): 366-369.

DOI：10.1016/j.gendis.2022.05.007

Mutations in BRG1-associated factor 45D(BAF45D,also known as double PHD fingers 2(DPF2))are linked to Coffin-Siris syndrome(CSS).1 However,the underlying molecular mechanisms remain ill-defined.Here,we identified that wild-type but not CSS-associated BAF45D mutants increased the expression of PAX6,2 a neural stem cell marker,and phosphorylated SMAD3(p-SMAD3)in spinal cord neural stem cells(NSCs)derived from H9 human embryonic stem cells.Both BAF45D and SMAAD3 are required for the induction of p-SMAD3 and PAX6 together with STAT3 and SMAD7 by retinoic acid(RA).In the pres-ence of RA,BAF45D knockdown decreased the expression of genes that regulate stem cell pluripotency.

• 出版日期2023-3
• 单位安徽医科大学; 中国科学技术大学