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ES2  is a gene deleted in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) which has homologs in species as distant as  Caenorhabditis elegans  and  Drosophila . The function of  ES2  is unknown, and the predicted protein sequence does not contain motifs which suggest a particular role in the developmental defects present in DGS and VCFS. Here we show that the mouse homolog,  Es2 , is transcribed in two forms resulting from the use of alternative polyadenylation signals. Structural analysis programs predict that the  Es2 -encoded peptide has a coiled-coil domain, and transfection experiments with an  Es2 -green fluorescent protein (GFP) fusion construct show that the peptide is recruited into the nucleus.  Es2  is highly expressed during mouse embryogenesis from E7 onwards.  In situ  hybridization with an RNA probe revealed that the gene is widely expressed; however, relatively higher expression was detected in the nervous system, with a particularly high area of expression in a sub-region of the pons. The  Es2  expression domain in the pons is shared with a Goosecoid-like gene ( Gscl ) which is located upstream of  Es2 , and raises the possibility that the two genes share regulatory elements and/or interact in this region of the developing brain. This finding suggests that different genes in the deleted region may be functionally related and might explain the occurrence of the characteristic phenotype in patients with non-overlapping genetic lesions.

human molecular genetics

ES2 , a Gene Deleted in DiGeorge Syndrome, Encodes a Nuclear Protein and Is Expressed During Early Mouse Development, Where It Shares an Expression Domain with a Goosecoid-Like Gene