Ontology highlight
ABSTRACT:
SUBMITTER: Avitzour M
PROVIDER: S-EPMC4235235 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Avitzour Michal M Mor-Shaked Hagar H Yanovsky-Dagan Shira S Aharoni Shira S Altarescu Gheona G Renbaum Paul P Eldar-Geva Talia T Schonberger Oshrat O Levy-Lahad Ephrat E Epsztejn-Litman Silvina S Eiges Rachel R
Stem cell reports 20141003 5
Fragile X syndrome (FXS) is the most common heritable form of cognitive impairment. It results from epigenetic silencing of the X-linked FMR1 gene by a CGG expansion in its 5'-untranslated region. Taking advantage of a large set of FXS-affected human embryonic stem cell (HESC) lines and isogenic subclones derived from them, we show that FMR1 hypermethylation commonly occurs in the undifferentiated state (six of nine lines, ranging from 24% to 65%). In addition, we demonstrate that hypermethylati ...[more]