GSCL, A GENE WITHIN THE MINIMAL DIGEORGE CRITICAL REGION, IS EXPRESSED IN PRIMORDIAL GERM-CELLS AND THE DEVELOPING PONS

Gscl, a paired-type homeobox gene, has been implicated in the patholog y of DGS/VCFS by virtue of its genomic location and its structural sim ilarity to the Gsc gene family. Immunohistochemical and in situ studie s were performed to examine the expression pattern of this gene during embryonic development. A polyclonal antibody generated to the full-le ngth protein and shown to be specific for GSCL by both Western blottin g and immunofluorescence, was used for immunohistochemical localizatio n. Both in situ and antibody staining localized GSCL expression to a c luster of cells ins the pons region of the developing brain. This GSCL expression pattern showed partial overlap with that of Pax6. More det ailed immunohistochemistry revealed the GSCL in primordial germ cells during migration from the epithelium of the hindgut and later as they colonize the developing gonads. GSCL was not detected ins tissues affe cted in DGS/VCSF. (C) 1998 Wiley-Liss, Inc.