Isolation and characterization of a novel transcript embedded within HIRA,a gene deleted in DiGeorge syndrome

We have isolated a few cDNAs from different human tissues, transcribed from the first intron of HIRA, a gene deleted in the DiGeorge syndrome. These c DNAs are produced by an intronic gene (22k48) which is transcribed by the H IRA opposite strand and is itself arranged in exons and subjected to altern ative splicing. The longest continuum cDNA sequence we obtained is 3.6 kb l ong and contains 3 different exons and 2 introns. 22k48 cDNA is composed of several tandemly arranged repeated elements (Alu, LINEs, CA(n)) surroundin g a unique sequence. In situ hybridization showed the presence of 22k48 RNA in the cytoplasm of CNS and PNS neurons. 22k48 RNA is able to bind cytopla smic proteins in the range of 45 to 60 kDa. 22k48 is a new member of the sm all group of genes that are transcribed but not translated, and its haploin sufficiency could contribute to the pathogenesis of the DiGeorge syndrome. (C) 1999 Academic Press.