Author/Authors :
Sandra Merscher، نويسنده , , Birgit Funke، نويسنده , , Jonathan A. Epstein، نويسنده , , Joerg Heyer، نويسنده , , Anne Puech، نويسنده , , Min Min Lu، نويسنده , , Ramnik J. Xavier، نويسنده , , Marie B. Demay، نويسنده , , Robert G. Russell، نويسنده , , Stephen Factor، نويسنده , , Kazuhito Tokooya، نويسنده , , Bruno St. Jore، نويسنده , , Melissa Lopez-Jones، نويسنده , , Raj K. Pandita، نويسنده , , Marie Lia، نويسنده , , Danaise Carrion، نويسنده , , Hui Xu، نويسنده , , Hubert Schorle، نويسنده , , James B. Kobler، نويسنده , , Peter Scambler، نويسنده , , et al.، نويسنده ,
Abstract :
Velo-cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS) is a human disorder characterized by a number of phenotypic features including cardiovascular defects. Most VCFS/DGS patients are hemizygous for a 1.5–3.0 Mb region of 22q11. To investigate the etiology of this disorder, we used a cre-loxP strategy to generate mice that are hemizygous for a 1.5 Mb deletion corresponding to that on 22q11. These mice exhibit significant perinatal lethality and have conotruncal and parathyroid defects. The conotruncal defects can be partially rescued by a human BAC containing the TBX1 gene. Mice heterozygous for a null mutation in Tbx1 develop conotruncal defects. These results together with the expression patterns of Tbx1 suggest a major role for this gene in the molecular etiology of VCFS/DGS.
