IDENTIFICATION OF A NOVEL PATERNALLY EXPRESSED TRANSCRIPT ADJACENT TOSNRPN IN THE PRADER-WILLI-SYNDROME CRITICAL REGION

Small nuclear ribonucleoprotein-associated polypeptide N (snRPN) and a n anonymous transcript, PAR-5, are two of the paternally expressed tra nscripts mapped to the Prader-Willi syndrome critical region. Using, l ong-range PCR, we have isolated the genomic interval between snRPN and PAR-5, identified a novel transcript in this region, and termed it PA R-SN. Northern analysis demonstrates that PAR-SN is expressed in brain , skeletal muscle, and heart. Like snRPN and PAR-5, PAR-SN is expresse d exclusively from the paternal homolog in cultured lymphoblasts. Sequ ence analysis of the transcript revealed no significant open reading f rame but did include a polymorphic dinucleotide repeat (CA)(17).