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Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome

Nature Genetics volume 22, pages 15–16 (1999)Cite this article

Prader-Willi syndrome (PWS) is caused by paternal deficiency for human chromosome 15q11-q13 (refs 1,2). Most patients have an approximately 4-Mb deletion of the paternal chromosome (~70%), whereas others have maternal uniparental disomy (UPD) or 'imprinting mutations' that result in the paternal chromosome having the methylation and expression pattern of a maternal chromosome. PWS is caused by deficiency of one or more genes that are imprinted and expressed preferentially from the paternal chromosome. Numerous candidate genes and transcripts are known to be localized in this region and imprinted with paternal expression, including the gene encoding small nuclear ribonucleoprotein polypeptide N (SNRPN; ref. 3), a gene designated imprinted in Prader-Willi (IPW), the zinc finger gene ZNF127, the necdin gene (NDN; refs 4, 5 , 6) and transcripts designated PAR1 and PAR5 (D15S227E and D15S226E, respectively).

Mice with maternal UPD (paternal deficiency) for proximal chromosome 7C demonstrate lethality in the perinatal period3. Mice with a deletion causing an apparent imprinting mutation with deficiency of paternal expression also demonstrate lethality7, suggesting that their hypotonia, poor feeding and early post-natal lethality parallels the hypotonia and poor feeding observed in newborns with PWS. Mice heterozygous or homozygous for a null mutation for the large ORF of Snrpn do not demonstrate lethality or the obesity and infertility of PWS (ref. 7).

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Figure 1: Preparation of a null mutation of Ndn.

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Acknowledgements

We thank X.-y. Wang, M. Ortiz, B. Antalffy and R. Sierra for technical assistance, and J. Bressler and Y.-h. Jiang for helpful discussions and critical reading of the manuscript. A.L.B. and T-F.T. were supported by the Howard Hughes Medical Institute with more recent support from NIH grant HD 37283.

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Authors and Affiliations

  1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 77030, Texas, USA

    Ting-Fen Tsai & Arthur L. Beaudet

  2. Department of Pathology, Baylor College of Medicine, Houston, 77030, Texas, USA

    Dawna Armstrong

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Correspondence to Arthur L. Beaudet.

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Tsai, TF., Armstrong, D. & Beaudet, A. Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome. Nat Genet 22, 15–16 (1999). https://doi.org/10.1038/8722

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