Ontology highlight
ABSTRACT:
SUBMITTER: Fulcoli FG
PROVIDER: S-EPMC2698216 | biostudies-literature | 2009 Jun
REPOSITORIES: biostudies-literature
Fulcoli F Gabriella FG Huynh Tuong T Scambler Peter J PJ Baldini Antonio A
PloS one 20090625 6
Tbx1 is a T-box transcription factor implicated in DiGeorge syndrome. The molecular function of Tbx1 is unclear although it can transactivate reporters with T-box binding elements. We discovered that Tbx1 binds Smad1 and suppresses the Bmp4/Smad1 signaling. Tbx1 interferes with Smad1 to Smad4 binding, and a mutation of Tbx1 that abolishes transactivation, does not affect Smad1 binding nor does affect the ability to suppress Smad1 activity. In addition, a disease-associated mutation of TBX1 that ...[more]