| Literature DB >> 1303278 |
B M Cattanach1, J A Barr, E P Evans, M Burtenshaw, C V Beechey, S E Leff, C I Brannan, N G Copeland, N A Jenkins, J Jones.
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.Entities:
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Year: 1992 PMID： 1303278 DOI： 10.1038/ng1292-270
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330