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Prader-Willi and snoRNAs

Nature Genetics volume 40, pages 688–689 (2008)Cite this article

A new paper reports an individual with the major features of Prader-Willi syndrome (PWS) and a microdeletion in 15q11–q13 removing a cluster of small nucleolar RNAs (snoRNAs). This report provides virtually conclusive evidence that PWS is caused by loss of expression of the C/D box HBII-85 snoRNAs.

PWS is a classic example of a human disorder involving genomic imprinting1. Over 20 years ago, this multifaceted disorder was shown to be associated with paternal interstitial deletions of chromosome 15q11–q13, and the hunt for the gene(s) involved has been underway ever since. Both the genetics and the phenotype of PWS are complex, and identifying the gene(s) responsible has been a challenge, but we now have the answer. On page 719 of this issue, Sahoo et al.2 report that a paternally derived deletion of the HBII-85 cluster of snoRNAs is responsible for key aspects of the Prader-Willi phenotype. The finding is of considerable interest, because this is the first disorder found to be associated with loss of expression of noncoding snoRNAs.

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Figure 1: The Prader-Willi domain on chromosome 15q11–13 (not to scale).

Joan Robson

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  1. Jo Peters is at the Medical Research Council Harwell, Mammalian Genetics Unit, Oxfordshire OX11 0RD, UK. j.peters@har.mrc.ac.uk,

    Jo Peters

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Peters, J. Prader-Willi and snoRNAs. Nat Genet 40, 688–689 (2008). https://doi.org/10.1038/ng0608-688

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