Human pluripotent stem cell models of Fragile X syndrome

Mol Cell Neurosci. 2016 Jun:73:43-51. doi: 10.1016/j.mcn.2015.11.011. Epub 2015 Nov 27.

Abstract

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism. The causal mutation in FXS is a trinucleotide CGG repeat expansion in the FMR1 gene that leads to human specific epigenetic silencing and loss of Fragile X Mental Retardation Protein (FMRP) expression. Human pluripotent stem cells (PSCs), including human embryonic stem cells (ESCs) and particularly induced PSCs (iPSCs), offer a model system to reveal cellular and molecular events underlying human neuronal development and function in FXS. Human FXS PSCs have been established and have provided insight into the epigenetic silencing of the FMR1 gene as well as aspects of neuronal development.

Keywords: Autism; Epigenetics; FMR1; FMRP; Fragile X syndrome; Human; Neural development; Pluripotent stem cells.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Cell Culture Techniques / methods
  • Epigenesis, Genetic*
  • Fragile X Mental Retardation Protein / genetics
  • Fragile X Mental Retardation Protein / metabolism
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / metabolism
  • Fragile X Syndrome / pathology*
  • Gene Silencing
  • Humans
  • Models, Biological
  • Pluripotent Stem Cells / cytology
  • Pluripotent Stem Cells / metabolism*

Substances

  • FMR1 protein, human
  • Fragile X Mental Retardation Protein