A HUMAN GENE SIMILAR TO DROSOPHILA-MELANOGASTER PEANUT MAPS TO THE DIGEORGE-SYNDROME REGION OF 22Q11

A Drosophila-related expressed sequence tag (DRES) with sequence simil arity to the peanut gene has previously been localized to human chromo some 22q11. We have isolated the cDNA corresponding to this DRES and s how that it is a novel member of the family of septin genes, which enc ode proteins with GTPase activity thought to interact during cytokines is. The predicted protein has P-loop nucleotide binding and GTPase mot ifs. The gene, which we tall PNUTL1. maps to the region of 22q11.2 fre quently deleted in DiGeorge and velo-cardio-facial syndromes and is pa rticularly highly expressed in the brain. The mouse homologue, Pnutl1, maps to MMU16 adding ro the growing number of genes from the DiGeorge syndrome region that map to this chromosome.