Developing models of DiGeorge syndrome.
DiGeorge syndrome is a common congenital disorder characterized by neural-crest-related developmental defects. Mouse models of DiGeorge syndrome have been created that recapitulate defects seen in human patients. Here, the genetic pathways regulating cardiac neural crest development are reviewed and the evidence implicating TBX1 and other genes on chromosome 22q11 in the pathogenesis of DiGeorge syndrome is summarized.
Epstein
J A
JA
BRB II, Room 954, Cardiovascular Division, Dept of Medicine, University of Pennsylvania Health System, 421 Curie Boulevard, Philadelphia, PA 19104, USA. epsteinj@mail.med.upenn.edu
D000818:Animals; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004062:DiGeorge Syndrome / Q000196:embryology / Q000209:etiology / Q000235:genetics*; D004195:Disease Models, Animal; D006330:Heart Defects, Congenital / Q000196:embryology / Q000235:genetics; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D008817:Mice, Mutant Strains; D008822:Mice, Transgenic; D020825:T-Box Domain Proteins / Q000235:genetics
D020825:T-Box Domain Proteins; C108625:TBX1 protein, human; C491573:Tbx1 protein, mouse