Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: sanjay khadayate
PROVIDER: E-GEOD-42960 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Chan Ping K PK Torres Raul R Yandim Cihangir C Law Pui P PP Khadayate Sanjay S Mauri Marta M Grosan Crina C Chapman-Rothe Nadine N Giunti Paola P Pook Mark M Festenstein Richard R
Human molecular genetics 20130307 13
Large intronic expansions of the triplet-repeat sequence (GAA.TTC) cause transcriptional repression of the Frataxin gene (FXN) leading to Friedreich's ataxia (FRDA). We previously found that GAA-triplet expansions stimulate heterochromatinization in vivo in transgenic mice. We report here using chromosome conformation capture (3C) coupled with high-throughput sequencing that the GAA-repeat expansion in FRDA cells stimulates a higher-order structure as a fragment containing the GAA-repeat expansi ...[more]