GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide

CATCH 22 syndromes, which include DiGeorge syndrome and Velocardiofacial sy ndrome, are the most common cause of congenital heart disease which involve microdeletion of 22q11. Using a strategy including EST searching, PCR ampl ification and 5'-RACE, we have cloned a 1487 bp cDNA fragment from human he art cDNA library. The cloned GNB1L cDNA encodes a G-protein B-subunit-like polypeptide, and the GNB1L gene is located in the critical region for DiGeo rge syndrome. A comparison of GNB1L cDNA. sequence with corresponding genom ic DNA sequence revealed that this gene consists of seven exons and spans a n approximately 60 kb genomic region. Northern blot analysis revealed GNB1L is highly expressed in the heart. (C) 2000 Elsevier Science B.V. All right s reserved.