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

Nature genetics, 1992-12, Vol.2 (4), p.270-274 [Peer Reviewed Journal]

ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng1292-270 ;PMID: 1303278

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Title:
A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression
Author: Cattanach, Bruce M ; Barr, Jacqueline A ; Evans, Edward P ; Burtenshaw, Michael ; Beechey, Colin V ; Leff, Stuart E ; Brannan, Camilynn I ; Copeland, Neal G ; Jenkins, Nancy A ; Jones, Janet
Subjects: Animals ; Autoantigens - genetics ; Chromosome Mapping ; Female ; Gene Expression ; Humans ; Male ; Mice ; Models, Genetic ; Multigene Family ; Prader-Willi Syndrome - genetics ; Ribonucleoproteins, Small Nuclear - genetics ; snRNP Core Proteins ; Translocation, Genetic
Is Part Of: Nature genetics, 1992-12, Vol.2 (4), p.270-274
Description: 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.
Publisher: United States
Language: English
Identifier: ISSN: 1061-4036
EISSN: 1546-1718
DOI: 10.1038/ng1292-270
PMID: 1303278
Source: GFMER Free Medical Journals
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A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression

ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng1292-270 ;PMID: 1303278

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