Loss of the fragile X mental retardation protein causes aberrant differentiation in human neural progenitor cells.

ABSTRACT: 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 development in the human nervous system remains to be confirmed. Here we describe human neural progenitor cells (NPCs) as a model for studying FMRP functions and FXS pathology. Transcriptome analysis of the NPCs derived from FMR1-knockout human induced pluripotent stem cells (iPSCs) showed altered expression of neural differentiation markers, parti

SUBMITTER: Sunamura N 

PROVIDER: S-EPMC6072755 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature