CLONING AND COMPARATIVE MAPPING OF A GENE FROM THE COMMONLY DELETED REGION OF DIGEORGE AND VELOCARDIOFACIAL SYNDROMES CONSERVED IN C-ELEGANS

We have identified and cloned a gene, ES2, encoding a putative 476 ami no acid protein with a predicted M(r) of 52,568. The gene is localized within the DiGeoge/Velocardiofacial syndrome locus on 22q11.2 and is deleted in all the patients in which a deletion within 22q11 could be demonstrated, with the exception of one patient. ES2 is expressed in a ll the tissues studied. Sequence comparison showed identity with five ESTs and at the amino acid level the sequence was highly similar to, a nd collinear with, a hypothetical C. elegans protein of unknown functi on. Mutation analysis was performed in 16 patients without deletion, b ut no mutation has been found. The cDNA sequence is conserved in mouse and is localized on MMU16B1-B3, known to contain a syntenic group in common with HSA 22q11.2.