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Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region

Nature Genetics volume 2, pages 265–269 (1992)Cite this article

Abstract

Prader–Willi syndrome (PWS) is associated with paternally derived chromosomal deletions in region 15q11–13 or with maternal disomy for chromosome 15. Therefore, loss of the expressed paternal alleles of maternally imprinted genes must be responsible for the PWS phenotype. We have mapped the gene encoding the small nuclear RNA associated polypeptide SmN (SNRPN) to human chromosome 15q12 and a processed pseudogene SNRPNP1 to chromosome region 6pter–p21. Furthermore, SNRPN was mapped to the minimal deletion interval that is critical for PWS. The fact that the mouse Snrpn gene is maternally imprinted in brain suggests that loss of the paternally derived SNRPN allele may be involved in the PWS phenotype.

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Authors and Affiliations

  1. Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, California, 94305, USA

    Tayfun Özçelik & Uta Francke

  2. Department of Pharmacology, Stanford University School of Medicine, Stanford, California, 94305, USA

    Stuart Leff & Elvira Sanjines

  3. Institut für Medizinische Genetik der Universität Zürich, Zürich, CH 8001

    Wendy Robinson & Albert Schinzel

  4. Department of Pathology, Stanford University School of Medicine, Stanford, California, 94305, USA

    Tim Donlon

  5. Genetics Division, Childrens Hospital and Howard Hughes Medical Institute, Boston, Massachusetts, 02115, USA

    Marc Lalande

  6. Department of Genetics and Pediatrics, Stanford University School of Medicine, Stanford, California, 94305, USA

    Uta Francke

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Özçelik, T., Leff, S., Robinson, W. et al. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region. Nat Genet 2, 265–269 (1992). https://doi.org/10.1038/ng1292-265

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