Expression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome

The murine Cdcrel-1 (Pnutl1) gene belongs to the family of septins, which a re thought to be involved in cytokinesis in yeast, Drosophila and vertebrat es. Recent studies implicate Cdcrel-1 in the regulation of vesicle transpor t in neurons of the adult brain. The human homologue, hCDCREL-1 maps to chr omosome 27q11.2 a region commonly deleted in patients displaying velo-cardi o-facial syndrome (VCFS) or DiGeorge syndrome (DOS). During development, Cd crel-1 transcripts are expressed from E10.5 on in the nervous system such a s the dorsal root ganglia and the cranial ganglia as well as the lateral la yer of the neural tube, the area where terminally differentiated neurons ar e located. Low level expression is found in the mesenchyme of the frontonas al mass and the limb bud mesenchyme of E11.5 and E13.5 murine embryos. At E 15.5, expression is detected in the nervous tissue and in the neural layer of the eye. Based on the expression pattern as well as clinical data, Cdcre l-1 may be involved in the etiology of VCFS/DGS. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.