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The Contribution of Pluripotent Stem Cell (PSC)-Based Models to the Study of Fragile X Syndrome (FXS)

1
Stem Cell Research Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem 91031, Israel
2
School of Medicine, Hebrew University of Jerusalem, Jerusalem 9112102, Israel
*
Author to whom correspondence should be addressed.
Brain Sci. 2019, 9(2), 42; https://doi.org/10.3390/brainsci9020042
Received: 1 January 2019 / Revised: 11 February 2019 / Accepted: 13 February 2019 / Published: 15 February 2019
(This article belongs to the Special Issue Towards Mechanism-based Treatments for Fragile X Syndrome)
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Abstract

Fragile X syndrome (FXS) is the most common heritable form of cognitive impairment. It results from a deficiency in the fragile X mental retardation protein (FMRP) due to a CGG repeat expansion in the 5′-UTR of the X-linked FMR1 gene. When CGGs expand beyond 200 copies, they lead to epigenetic gene silencing of the gene. In addition, the greater the allele size, the more likely it will become unstable and exhibit mosaicism for expansion size between and within tissues in affected individuals. The timing and mechanisms of FMR1 epigenetic gene silencing and repeat instability are far from being understood given the lack of appropriate cellular and animal models that can fully recapitulate the molecular features characteristic of the disease pathogenesis in humans. This review summarizes the data collected to date from mutant human embryonic stem cells, induced pluripotent stem cells, and hybrid fusions, and discusses their contribution to the investigation of FXS, their key limitations, and future prospects. View Full-Text
Keywords: fragile X syndrome; unstable repeat diseases; epigenetic gene silencing; DNA methylation; repeat instability; pluripotent stem cells fragile X syndrome; unstable repeat diseases; epigenetic gene silencing; DNA methylation; repeat instability; pluripotent stem cells
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Abu Diab, M.; Eiges, R. The Contribution of Pluripotent Stem Cell (PSC)-Based Models to the Study of Fragile X Syndrome (FXS). Brain Sci. 2019, 9, 42.

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