| pubmed-article:16075369 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:16075369 | lifeskim:mentions | umls-concept:C0021289 | lld:lifeskim |
| pubmed-article:16075369 | lifeskim:mentions | umls-concept:C0026339 | lld:lifeskim |
| pubmed-article:16075369 | lifeskim:mentions | umls-concept:C0025914 | lld:lifeskim |
| pubmed-article:16075369 | lifeskim:mentions | umls-concept:C0026809 | lld:lifeskim |
| pubmed-article:16075369 | lifeskim:mentions | umls-concept:C0026336 | lld:lifeskim |
| pubmed-article:16075369 | lifeskim:mentions | umls-concept:C0751969 | lld:lifeskim |
| pubmed-article:16075369 | lifeskim:mentions | umls-concept:C0032897 | lld:lifeskim |
| pubmed-article:16075369 | lifeskim:mentions | umls-concept:C2240000 | lld:lifeskim |
| pubmed-article:16075369 | lifeskim:mentions | umls-concept:C1511545 | lld:lifeskim |
| pubmed-article:16075369 | pubmed:issue | 6 | lld:pubmed |
| pubmed-article:16075369 | pubmed:dateCreated | 2005-8-2 | lld:pubmed |
| pubmed-article:16075369 | pubmed:abstractText | Prader-Willi syndrome (PWS) is a neurobehavioral disorder caused by the lack of paternal expression of imprinted genes in the human chromosome region 15q11-13. Recent studies of rare human translocation patients narrowed the PWS critical genes to a 121-kb region containing PWCR1/HBII-85 and HBII-438 snoRNA genes. The existing mouse models of PWS that lack the expression of multiple genes, including Snrpn, Ube3a, and many intronic snoRNA genes, are characterized by 80%-100% neonatal lethality. To define the candidate region for PWS-like phenotypes in mice, we analyzed the expression of several genetic elements in mice carrying the large radiation-induced p(30PUb) deletion that includes the p locus. Mice having inherited this deletion from either parent develop normally into adulthood. By Northern blot and RT-PCR assays of brain tissue, we found that Pwcr1/MBII-85 snoRNAs are expressed normally, while MBII-52 snoRNAs are not expressed when the deletion is paternally inherited. Mapping of the distal deletion breakpoint indicated that the p30PUb deletion includes the entire MBII-52 snoRNA gene cluster and three previously unmapped EST sequences. The lack of expression of these elements in mice with a paternal p30PUb deletion indicates that they are not critical for the neonatal lethality observed in PWS mouse models. In addition, we identified MBII-436, the mouse homolog of the HBII-436 snoRNA, confirmed its imprinting status, and mapped it outside of the p30PUb deletion. Taking together all available data, we conclude that the lack of Pwcr1/MBII-85 snoRNA expression is the most likely cause for the neonatal lethality in PWS model mice. | lld:pubmed |
| pubmed-article:16075369 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16075369 | pubmed:language | eng | lld:pubmed |
| pubmed-article:16075369 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16075369 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:16075369 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16075369 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:16075369 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:16075369 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:16075369 | pubmed:issn | 0938-8990 | lld:pubmed |
| pubmed-article:16075369 | pubmed:author | pubmed-author:JohnsonDabney... | lld:pubmed |
| pubmed-article:16075369 | pubmed:author | pubmed-author:DingFengF | lld:pubmed |
| pubmed-article:16075369 | pubmed:author | pubmed-author:FranckeUtaU | lld:pubmed |
| pubmed-article:16075369 | pubmed:author | pubmed-author:NichollsRober... | lld:pubmed |
| pubmed-article:16075369 | pubmed:author | pubmed-author:DharMadhu SMS | lld:pubmed |
| pubmed-article:16075369 | pubmed:author | pubmed-author:PrintsYelenaY | lld:pubmed |
| pubmed-article:16075369 | pubmed:author | pubmed-author:Garnacho-Mont... | lld:pubmed |
| pubmed-article:16075369 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:16075369 | pubmed:volume | 16 | lld:pubmed |
| pubmed-article:16075369 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:16075369 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:16075369 | pubmed:pagination | 424-31 | lld:pubmed |
| pubmed-article:16075369 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
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| pubmed-article:16075369 | pubmed:meshHeading | pubmed-meshheading:16075369... | lld:pubmed |
| pubmed-article:16075369 | pubmed:year | 2005 | lld:pubmed |
| pubmed-article:16075369 | pubmed:articleTitle | Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models. | lld:pubmed |
| pubmed-article:16075369 | pubmed:affiliation | Department of Genetics, Stanford University, Stanford, California 94305, USA. | lld:pubmed |
| pubmed-article:16075369 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:16075369 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:16075369 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| pubmed-article:16075369 | pubmed:publicationType | Research Support, N.I.H., Extramural | lld:pubmed |
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