ZNF74, a gene deleted in DiGeorge syndrome, is expressed in human neural crest-derived tissues and foregut endoderm epithelia

DiGeorge syndrome (DGS) is a developmental disorder associated with large h emizygous deletions on chromosome 22q11.2. ZNF74 zinc finger gene is a cand idate from the commonly deleted region. To address the potential involvemen t of ZNF74 in DGS, its human developmental expression pattern has been asse ssed. In situ hybridization on Carnegie Stage 18 embryos revealed that ZNF7 4 expression is limited to specific neural crest-derived tissues and neuroe pithelium of the spinal cord as well as to foregut endoderm epithelia (esop hagus and respiratory tract). Interestingly, ZNF74 expression was detected in the wall of the pulmonary artery and aorta and in the aortic valve, whic h are populated by neural crest-derived cells. This finding is significant, considering that DGS is believed to result from defective neural crest con tributions and that outflow tract and aorticopulmonary septation defects ar e typical features of the DGS phenotype. Thus, the restricted expression of ZNF74 in structures affected in DGS suggests a role for this putative regu lator of gene expression in aspects of the DGS phenotype. (C) 1999 Academic Press.