A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression

Bruce M. Cattanach, Jacqueline A. Barr, Edward P. Evans, Michael Burtenshaw, Colin V. Beechey, Stuart E. Leff, Camilynn I. Brannan, Neal G. Copeland, Nancy A. Jenkins, Janet Jones

Research output: Contribution to journalArticle

151 Scopus citations

Abstract

The best examples of imprinting in humans are provided by the Angelman and Prader-Willi syndromes (AS and PWS) which are associated with maternal and paternal 15q11-13 deletions, respectively, and also with paternal and maternal disomy 15. The region of the deletions has homology with a central part of mouse chromosome 7, incompletely tested for imprinting effects. Here, we report that maternal duplication for this region causes a murine imprinting effect which may correspond to PWS. Paternal duplication was not associated with any detectable effect that might correspond with AS. Gene expression studies established that Snrpn is not expressed in mice with the maternal duplication and suggest that the closely-linked Gabrb-3 locus is not subject to imprinting. Finally, an additional new imprinting effect is described.

Original languageEnglish (US)
Pages (from-to)270-274
Number of pages5
JournalNature Genetics
Volume2
Issue number4
DOIs
StatePublished - Jan 1 1992

ASJC Scopus subject areas

  • Genetics

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