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The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

Nature Geneticsvolume 17pages357361 (1997) | Download Citation



Prader-Willi syndrome (PWS) is a neurogenetic disorder that results from the absence of a normal paternal contribution to the 15q11–13 region1–3. The clinical manifestations of PWS are a transient severe hypotonia in the newborn period, with mental retardation, hypogonadism and obesity observed later in development4. Five transcripts with exclusive expression from the paternal allele have been isolated, but none of these has been shown to be involved in PWS5,6. In this study, we report the isolation and characterization of NDN, a new human imprinted gene. NDN is exclusively expressed from the paternal allele in the tissues analysed and is located in the PWS region. It encodes a putative protein homologous to the mouse brain-specific NECDIN protein7, NDN; as in mouse, expression in brain is restricted to post-mitotic neurons. NDN displays several characteristics of an imprinted locus, including allelic DNA methylation and asynchronous DNA replication. A complete lack of NDN expression in PWS brain and f ibroblasts indicates that the gene is expressed exclusively from the paternal allele in these tissues and suggests a possible role of this new gene in PWS.

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  1. Centre de Recherches de Biochimie Macromoléculaire, CNRS ERS 115, INSERM U249, route de Mende, BP 5051, 34033, Montpellier Cedex, France

    • Philippe Jay
    • , Sylvie Taviaux
    •  & Philippe Berta
  2. Genetics Division, Children's Hospital, Harvard Medical School and Howard Hughes Medical Institute, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA

    • Claire Rougeulle
    •  & Marc Lalande
  3. Laboratoire de Biologie cellulaire, 27 Bvd. Jean Moulin, 13385, Marseille Cedex, France

    • Annick Massacrier
    •  & Pierre Cau
  4. Laboratoire de Unité INSERM 406, 27 Bvd. Jean Moulin, 13385, Marseille Cedex, France

    • Anne Moncla
    • , Marie-Geneviève Mattel
    • , Perrine Malzac
    • , Nathalie Roëckel
    • , Jean-Louis Bergé Lefranc
    •  & Françoise Muscatelli


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Correspondence to Françoise Muscatelli.

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