title: Human pluripotent stem cell models of Fragile X syndrome.
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.
authors.affiliation: Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, United States. Electronic address: bhattacharyy@waisman.wisc.edu.
authors.forename: Anita
authors.initials: A
authors.lastname: Bhattacharyya
authors.affiliation: Waisman Center, University of Wisconsin-Madison, Madison, WI 53705, United States. Electronic address: xinyu.zhao@wisc.edu.
authors.forename: Xinyu
authors.initials: X
authors.lastname: Zhao
mesh_terms: D018929:Cell Culture Techniques / Q000379:methods; D044127:Epigenesis, Genetic; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics / Q000378:metabolism; D005600:Fragile X Syndrome / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D020868:Gene Silencing; D006801:Humans; D008954:Models, Biological; D039904:Pluripotent Stem Cells / Q000166:cytology / Q000378:metabolism*
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human
keywords: Autism; Epigenetics; FMR1; FMRP; Fragile X syndrome; Human; Neural development; Pluripotent stem cells