Stochastic Loss of Silencing of the Imprinted Ndn/NDN Allele, in a Mouse Model and Humans with Prader-Willi Syndrome, Has Functional Consequences

Anne Rieusset; Fabienne Schaller; Unga Unmehopa; Valery Matarazzo; Françoise Watrin; Matthias Linke; Beatrice Georges; Jocelyn Bischof; Femke Dijkstra; Monique Bloemsma; Severine Corby; François J. Michel; Rachel Wevrick; Ulrich Zechner; Dick Swaab; Keith Dudley; Laurent Bezin; Françoise Muscatelli

doi:10.1371/journal.pgen.1003752

Loading metrics

Open Access

Peer-reviewed

Research Article

Stochastic Loss of Silencing of the Imprinted Ndn/NDN Allele, in a Mouse Model and Humans with Prader-Willi Syndrome, Has Functional Consequences

Anne Rieusset ,

Contributed equally to this work with: Anne Rieusset, Fabienne Schaller

Affiliations INSERM, Institut de Neurobiologie de la Méditerranée (INMED) U901, Marseille, France, Aix-Marseille Université, INMED UMR901, Marseille, France
⨯
Fabienne Schaller ,

Contributed equally to this work with: Anne Rieusset, Fabienne Schaller

Affiliations INSERM, Institut de Neurobiologie de la Méditerranée (INMED) U901, Marseille, France, Aix-Marseille Université, INMED UMR901, Marseille, France
⨯
Unga Unmehopa,

Affiliation Netherlands Institute for Neuroscience, an Institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
⨯
Valery Matarazzo,

Affiliations INSERM, Institut de Neurobiologie de la Méditerranée (INMED) U901, Marseille, France, Aix-Marseille Université, INMED UMR901, Marseille, France
⨯
Françoise Watrin,

Affiliations INSERM, Institut de Neurobiologie de la Méditerranée (INMED) U901, Marseille, France, Aix-Marseille Université, INMED UMR901, Marseille, France
⨯
Matthias Linke,

Affiliation Universitätsmedizin der Johannes Gutenberg-Universität Mainz Institut für Humangenetik, Mainz, Germany
⨯
Beatrice Georges,

Affiliation INSERM, U1028, CNRS, UMR5292, Université Claude Bernard Lyon 1, Lyon Neuroscience Center, Villeurbanne, France
⨯
Jocelyn Bischof,

Affiliation Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada
⨯
Femke Dijkstra,

Affiliation Netherlands Institute for Neuroscience, an Institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
⨯
Monique Bloemsma,

Affiliation Netherlands Institute for Neuroscience, an Institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
⨯
Severine Corby,

Affiliations INSERM, Institut de Neurobiologie de la Méditerranée (INMED) U901, Marseille, France, Aix-Marseille Université, INMED UMR901, Marseille, France
⨯
François J. Michel,

Affiliations INSERM, Institut de Neurobiologie de la Méditerranée (INMED) U901, Marseille, France, Aix-Marseille Université, INMED UMR901, Marseille, France
⨯
Rachel Wevrick,

Affiliation Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada
⨯
Ulrich Zechner,

Affiliation Universitätsmedizin der Johannes Gutenberg-Universität Mainz Institut für Humangenetik, Mainz, Germany
⨯
Dick Swaab,

Affiliation Netherlands Institute for Neuroscience, an Institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
⨯
Keith Dudley,

Affiliations INSERM, Institut de Neurobiologie de la Méditerranée (INMED) U901, Marseille, France, Aix-Marseille Université, INMED UMR901, Marseille, France
⨯
Laurent Bezin,

Affiliation INSERM, U1028, CNRS, UMR5292, Université Claude Bernard Lyon 1, Lyon Neuroscience Center, Villeurbanne, France
⨯
[ ... ],
Françoise Muscatelli

* E-mail: francoise.muscatelli@inserm.fr

Affiliations INSERM, Institut de Neurobiologie de la Méditerranée (INMED) U901, Marseille, France, Aix-Marseille Université, INMED UMR901, Marseille, France
⨯
[ view all ]
[ view less ]

Stochastic Loss of Silencing of the Imprinted Ndn/NDN Allele, in a Mouse Model and Humans with Prader-Willi Syndrome, Has Functional Consequences

Anne Rieusset,
Fabienne Schaller,
Unga Unmehopa,
Valery Matarazzo,
Françoise Watrin,
Matthias Linke,
Beatrice Georges,
Jocelyn Bischof,
Femke Dijkstra,
Monique Bloemsma

Published: September 5, 2013
https://doi.org/10.1371/journal.pgen.1003752

Reader Comments (0)

Post a new comment on this article

Subject Areas
?

For more information about PLOS Subject Areas, click here.
We want your feedback. Do these Subject Areas make sense for this article? Click the target next to the incorrect Subject Area and let us know. Thanks for your help!

DNA methylation
Is the Subject Area "DNA methylation" applicable to this article?

Thanks for your feedback.
Mouse models
Is the Subject Area "Mouse models" applicable to this article?

Thanks for your feedback.
Prader-Willi syndrome
Is the Subject Area "Prader-Willi syndrome" applicable to this article?

Thanks for your feedback.
Neurons
Is the Subject Area "Neurons" applicable to this article?

Thanks for your feedback.
Hypothalamus
Is the Subject Area "Hypothalamus" applicable to this article?

Thanks for your feedback.
Polymerase chain reaction
Is the Subject Area "Polymerase chain reaction" applicable to this article?

Thanks for your feedback.
Apnea
Is the Subject Area "Apnea" applicable to this article?

Thanks for your feedback.
Embryos
Is the Subject Area "Embryos" applicable to this article?

Thanks for your feedback.