Identification of a novel paternally expressed transcript adjacent to snRPN in the Prader-Willi syndrome critical region

Yi Ning, Anna Roschke, Susan L. Christian, Jennifer Lesser, James S. Sutcliffe, David H. Ledbetter

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

Abstract

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

Original languageEnglish (US)
Pages (from-to)742-746
Number of pages5
JournalGenome research
Volume6
Issue number8
DOIs
StatePublished - Aug 1996
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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