Gene expression profile of FMR1-KO iPSCs-derived NPCs

Fragile X syndrome (FXS) is caused by transcriptional silencing of the FMR1 gene during embryonic development with the consequent loss of the encoded fragile X mental retardation protein (FMRP). The pathological mechanisms of FXS have been extensively studied using the Fmr1-knockout mouse, and the findings suggest important roles for FMRP in synaptic plasticity and proper functioning of neural networks. However, the function of FMRP during early neural development in human nervous systems remains to be confirmed. We established human neural progenitor cells (NPCs) as a model for studying FMRP functions and FXS pathology. In order to identify the differentially expressed genes in FMR1KO-NPCs, we performed DNA array analysis on this model. We disrupted FMR1 gene in a male induced pluripotent stem cells (iPSCs) line TIG114 using gene editing. Resultant iPSCs were then differentiated into NPCs. DNA array analysis were performed on NPCs derived from FMR1-KO iPSC line (iNPC-KO) and the parental line (iNPC-WT). Duplicate for each genotypes were analyzed (4 samples in total).