Kliniken & Institute … Institute Institute of Human… Research Department of Human… Genetics of… SHOX regulation in…

The short stature homeobox gene SHOX


Short stature is a growth disorder with often unknown genetic causes. Defects in early developmental genes may be responsible for this kind of growth disorder.

The most frequent cause of idiopathic short stature up to date concerns the SHOX gene that we isolated and characterized in our department. Gene defects of the homeobox transcription factor SHOX can be found in syndromal (Léri- Weill, Langer and Turner syndrome) and nonsyndromal
(idiopathic) short stature. At the present time we are analyzing different cell systems and animal models (mouse, frog, chicken) to better understand the function of SHOX during bone development and the exploitation of the molecular signal pathway. The characterization of regulatory processes as well as the identification of different target genes activated by SHOX through si-RNA,microarray and ChIP methods, are topics of thorough research. They are supposed to help us understand the SHOX-dependent early developmental biological processes.