ea0028oc5.1 | Growth, tumours and pituitary | SFEBES2012
Hanson Dan
, Murray Philip
, Coulson Tessa
, Saunders Emma
, Omokanye Ajibola
, Carter Emily
, Sud Amit
, Whatmore Andrew
, Black Graeme
, Clayton Peter
3-M syndrome is characterised by post-natal growth restriction. We have identified causative mutations in three genes CUL7, OBSL1 and CCDC8. CUL7, a component of an E3 ubiquitin ligase, has a binding domain for p53 and its reduction or absence has a major impact on growth and cell division. OBSL1 is postulated to have a role as a cytoskeletal adaptor, and was not recognised previously to be a growth regulator. The domain structure of CCDC8 predicts a possi...