Neuronally-expressed necdin gene: an imprinted candidate gene in Prader-Willi syndrome

Abstract

Prader-Willi syndrome (PWS) is associated with paternal-specific deficiencies of human chromosome 15q11–q13, caused by paternal deletion, maternal uniparental disomy (UPD), or imprinting mutations. Several imprinted, paternally-expressed genes have been identified within the ∼1–1·5 Mb PWS candidate region, including SNRPN, IPW, ZNF127, PAR-5, PAR-1, and PAR-SN. 1 Sutcliffe JS Jiang YH Galjaard RJ et al. The E6–AP ubiquitin-protein ligase (UbeSa) gene is localized within a narrowed Angelman syndrome critical region. Genome Res. 1997; 7: 368-377 PubMed Google Scholar Because the three major classes of PWS result in the loss of all paternal-specific gene expression, PWS may well represent a contiguous gene syndrome, with deficiencies of several genes contributing to the phenotype.