Article
Regulatory variants of FOXG1 in the context of its topological domain organisation.
European journal of human genetics : EJHG - 1 Feb 2018
Mehrjouy Mana M, Fonseca Ana Carolina S, Ehmke Nadja, Paskulin Giorgio, Novelli Antonio, Benedicenti Francesco, Mencarelli Maria Antonietta, Renieri Alessandra, Busa Tiffany, Missirian Chantal, Hansen Claus, Abe Kikue Terada, Speck-Martins Carlos Eduardo, Vianna-Morgante Angela M, Bak Mads, Tommerup Niels
Abstract excerpt
FOXG1 syndrome is caused by FOXG1 intragenic point mutations, or by long-range position effects (LRPE) of intergenic structural variants. However, the size of the FOXG1 regulatory landscape is uncertain, because the associated topologically associating domain (TAD) in fibroblasts is split into two domains in embryonic stem cells (hESC). Indeed, it has been suggested that the pathogenetic mechanism of deletions...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.