Epigenetic modifications in human fragile X pluripotent stem cells; Implications in fragile X syndrome modeling

Jeannine Gerhardt

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Patients with fragile X syndrome (FXS) exhibit moderate to severe intellectual disabilities. In addition, one-third of FXS patients show characteristics of autism spectrum disorder. FXS is caused by a trinucleotide repeat expansion, which leads to silencing of the. fragile X mental retardation (FMR1) gene. The absence of the. FMR1 gene product, FMRP, is the reason for the disease symptoms. It has been suggested that repeat instability and transcription of the. FMR1 gene occur during early embryonic development, while after cell differentiation repeats become stable and the. FMR1 gene is silent. Epigenetic marks, such as DNA methylation, are associated with gene silencing and repeat stability at the. FMR1 locus. However, the mechanisms leading to gene silencing and repeat expansion are still ambiguous, because studies at the human genomic locus were limited until now. The FXS pluripotent stem cells, recently derived from FXS adult cells and FXS blastocysts, are new useful tools to examine these mechanisms at the human endogenous. FMR1 locus. This review summarizes the epigenetic features and experimental studies of FXS human embryonic and FXS induced pluripotent stem cells, generated so far + This article is part of a Special Issue entitled SI: Exploiting human neurons.

Original languageEnglish (US)
JournalBrain Research
DOIs
StateAccepted/In press - 2015

Fingerprint

Fragile X Syndrome
Pluripotent Stem Cells
Epigenomics
Gene Silencing
Intellectual Disability
Genes
Trinucleotide Repeat Expansion
Induced Pluripotent Stem Cells
Blastocyst
DNA Methylation
Embryonic Development
Cell Differentiation
Neurons

Keywords

  • Fragile X syndrome
  • FXS human embryonic stem cells
  • FXS induced pluripotent stem cells

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology
  • Developmental Biology
  • Molecular Biology

Cite this

Epigenetic modifications in human fragile X pluripotent stem cells; Implications in fragile X syndrome modeling. / Gerhardt, Jeannine.

In: Brain Research, 2015.

Research output: Contribution to journalArticle

@article{3df82ebd02d3427d91c877a8fc15a2e8,
title = "Epigenetic modifications in human fragile X pluripotent stem cells; Implications in fragile X syndrome modeling",
abstract = "Patients with fragile X syndrome (FXS) exhibit moderate to severe intellectual disabilities. In addition, one-third of FXS patients show characteristics of autism spectrum disorder. FXS is caused by a trinucleotide repeat expansion, which leads to silencing of the. fragile X mental retardation (FMR1) gene. The absence of the. FMR1 gene product, FMRP, is the reason for the disease symptoms. It has been suggested that repeat instability and transcription of the. FMR1 gene occur during early embryonic development, while after cell differentiation repeats become stable and the. FMR1 gene is silent. Epigenetic marks, such as DNA methylation, are associated with gene silencing and repeat stability at the. FMR1 locus. However, the mechanisms leading to gene silencing and repeat expansion are still ambiguous, because studies at the human genomic locus were limited until now. The FXS pluripotent stem cells, recently derived from FXS adult cells and FXS blastocysts, are new useful tools to examine these mechanisms at the human endogenous. FMR1 locus. This review summarizes the epigenetic features and experimental studies of FXS human embryonic and FXS induced pluripotent stem cells, generated so far + This article is part of a Special Issue entitled SI: Exploiting human neurons.",
keywords = "Fragile X syndrome, FXS human embryonic stem cells, FXS induced pluripotent stem cells",
author = "Jeannine Gerhardt",
year = "2015",
doi = "10.1016/j.brainres.2015.10.004",
language = "English (US)",
journal = "Brain Research",
issn = "0006-8993",
publisher = "Elsevier",

}

TY - JOUR

T1 - Epigenetic modifications in human fragile X pluripotent stem cells; Implications in fragile X syndrome modeling

AU - Gerhardt, Jeannine

PY - 2015

Y1 - 2015

N2 - Patients with fragile X syndrome (FXS) exhibit moderate to severe intellectual disabilities. In addition, one-third of FXS patients show characteristics of autism spectrum disorder. FXS is caused by a trinucleotide repeat expansion, which leads to silencing of the. fragile X mental retardation (FMR1) gene. The absence of the. FMR1 gene product, FMRP, is the reason for the disease symptoms. It has been suggested that repeat instability and transcription of the. FMR1 gene occur during early embryonic development, while after cell differentiation repeats become stable and the. FMR1 gene is silent. Epigenetic marks, such as DNA methylation, are associated with gene silencing and repeat stability at the. FMR1 locus. However, the mechanisms leading to gene silencing and repeat expansion are still ambiguous, because studies at the human genomic locus were limited until now. The FXS pluripotent stem cells, recently derived from FXS adult cells and FXS blastocysts, are new useful tools to examine these mechanisms at the human endogenous. FMR1 locus. This review summarizes the epigenetic features and experimental studies of FXS human embryonic and FXS induced pluripotent stem cells, generated so far + This article is part of a Special Issue entitled SI: Exploiting human neurons.

AB - Patients with fragile X syndrome (FXS) exhibit moderate to severe intellectual disabilities. In addition, one-third of FXS patients show characteristics of autism spectrum disorder. FXS is caused by a trinucleotide repeat expansion, which leads to silencing of the. fragile X mental retardation (FMR1) gene. The absence of the. FMR1 gene product, FMRP, is the reason for the disease symptoms. It has been suggested that repeat instability and transcription of the. FMR1 gene occur during early embryonic development, while after cell differentiation repeats become stable and the. FMR1 gene is silent. Epigenetic marks, such as DNA methylation, are associated with gene silencing and repeat stability at the. FMR1 locus. However, the mechanisms leading to gene silencing and repeat expansion are still ambiguous, because studies at the human genomic locus were limited until now. The FXS pluripotent stem cells, recently derived from FXS adult cells and FXS blastocysts, are new useful tools to examine these mechanisms at the human endogenous. FMR1 locus. This review summarizes the epigenetic features and experimental studies of FXS human embryonic and FXS induced pluripotent stem cells, generated so far + This article is part of a Special Issue entitled SI: Exploiting human neurons.

KW - Fragile X syndrome

KW - FXS human embryonic stem cells

KW - FXS induced pluripotent stem cells

UR - http://www.scopus.com/inward/record.url?scp=84952012764&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84952012764&partnerID=8YFLogxK

U2 - 10.1016/j.brainres.2015.10.004

DO - 10.1016/j.brainres.2015.10.004

M3 - Article

JO - Brain Research

JF - Brain Research

SN - 0006-8993

ER -