IDENTIFICATION, CHARACTERIZATION, AND PRECISE MAPPING OF A HUMAN GENEENCODING A NOVEL MEMBRANE-SPANNING PROTEIN FROM THE 22Q11 REGION DELETED IN VELO-CARDIO-FACIAL SYNDROME

Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are cha racterized by a wide spectrum of phenotypes including cleft palate, co notruncal heart defects, and facial dysmorphology. Hemizygosity for a portion of chromosome 22q11 has been detected in 80-85% of VCFS/DGS pa tients. Using a cDNA selection protocol, we have identified a new gene , TMVCF (transmembrane protein deleted in VCFS), which maps to the del eted interval. The genomic locus is positioned between polymorphic mar kers D22S944 and D22S941. TRIVCF encodes a small protein of 219 amino acids that is predicted to contain two membrane-spanning domains. TMVC F is expressed abundantly in human adult lung, heart, and skeletal mus cle, and transcripts can be detected at least as early as Day 9 of mou se development. (C) 1997 Academic Press.