ea0027oc2.8 | Oral Communications 2 (Quick Fire) | BSPED2011
Alatzoglou Kyriaki S
, Andoniadou Cynthia L
, Kelberman Daniel
, Kim Hyoong-Goo
, Pedersen-White Jennifer
, Layman Lawrence
, Martinez-Barbera Juan Pedro
, Dattani Mehul T
Background: SOX2 is an early developmental transcription factor implicated in pituitary development. It consists of a N-terminal domain, a high mobility group (HMG)-DNA binding domain and a carboxyl-terminal domain. Heterozygous SOX2 mutations have been described in patients with a severe ocular phenotype and hypogonadotrophic hypogonadism (HH) with/without associated abnormalities. In vitro SOX2 interacts with β-catenin, a member of the Wnt signalling pathway, and...