Ontology highlight
ABSTRACT:
SUBMITTER: Ottaviani A
PROVIDER: S-EPMC3035130 | biostudies-literature | 2010 Jan-Feb
REPOSITORIES: biostudies-literature
Ottaviani Alexandre A Schluth-Bolard Caroline C Gilson Eric E Magdinier Frédérique F
Nucleus (Austin, Tex.) 20100101 1
Using cellular models that mimic the organizations of the subtelomeric 4q35 locus found in patients affected with Facio-Scapulo-Humeral Dystrophy (FSHD) and in healthy individuals, we recently investigated the biological function of the D4Z4 macrosatellite in this subtelomeric context.We demonstrated that D4Z4 acts as a CTCF and A-type lamins dependent insulator element exhibiting both enhancer- blocking and barrier activities, and displaces a telomere towards the nuclear periphery. This periphe ...[more]