Ontology highlight
ABSTRACT:
SUBMITTER: Cohen-Hadad Y
PROVIDER: S-EPMC5106522 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
Cohen-Hadad Yaara Y Altarescu Gheona G Eldar-Geva Talia T Levi-Lahad Ephrat E Zhang Ming M Rogaeva Ekaterina E Gotkine Marc M Bartok Osnat O Ashwal-Fluss Reut R Kadener Sebastian S Epsztejn-Litman Silvina S Eiges Rachel R
Stem cell reports 20161020 5
We established two human embryonic stem cell (hESC) lines with a GGGGCC expansion in the C9orf72 gene (C9), and compared them with haploidentical and unrelated C9 induced pluripotent stem cells (iPSCs). We found a marked difference in C9 methylation between the cells. hESCs and parental fibroblasts are entirely unmethylated while the iPSCs are hypermethylated. In addition, we show that the expansion alters promoter usage and interferes with the proper splicing of intron 1, eventually leading to ...[more]