UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?
Molecular genetics is contributing to the understanding of normal and abnormal cardiovascular development and morphogenesis. Deletions of chromosome 22q11.2 have been associated with distinct phenotypes that result from a failure to form derivatives of third and fourth branchial arches, including DiGeorge syndrome (DGS) and velo-cardio-facial syndrome (VCFS). The biochemical mechanisms underlying these phenotypes remain undetermined. A recent study provides new insight into the mechanism by which gene deletions produce the DGS and VCFS phenotypes.
Novelli
G
G
Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Via di Tor Vergata 135-00133 Rome, Italy. novelli@med.uniroma2.it
Amati
F
F
Dallapiccola
B
B
D033942:Adaptor Proteins, Vesicular Transport; D018797:Cell Cycle Proteins / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008957:Models, Genetic; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D014681:Velopharyngeal Insufficiency / Q000235:genetics
D033942:Adaptor Proteins, Vesicular Transport; C113571:CDC45 protein, human; C491876:Cdc45 protein, mouse; D018797:Cell Cycle Proteins; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C491497:UFD1 protein, human