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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2010-6-9
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pubmed:abstractText |
Several imprinted genes have been implicated in the process of placentation. The distal region of mouse chromosome 7 (Chr 7) contains at least ten imprinted genes, several of which are expressed from the maternal homologue in the placenta. The corresponding paternal alleles of these genes are silenced in cis by an incompletely understood mechanism involving the formation of a repressive nuclear compartment mediated by the long non-coding RNA Kcnq1ot1 initiated from imprinting centre 2 (IC2). However, it is unknown whether some maternally expressed genes are silenced on the paternal homologue via a Kcnq1ot1-independent mechanism. We have previously reported that maternal inheritance of a large truncation of Chr7 encompassing the entire IC2-regulated domain (DelTel7 allele) leads to embryonic lethality at mid-gestation accompanied by severe placental abnormalities. Kcnq1ot1 expression can be abolished on the paternal chromosome by deleting IC2 (IC2KO allele). When the IC2KO mutation is paternally inherited, epigenetic silencing is lost in the region and the DelTel7 lethality is rescued in compound heterozygotes, leading to viable DelTel7/IC2KO mice.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1471-213X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
10
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
50
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pubmed:dateRevised |
2010-9-30
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pubmed:meshHeading |
pubmed-meshheading:20459838-Animals,
pubmed-meshheading:20459838-Beckwith-Wiedemann Syndrome,
pubmed-meshheading:20459838-Chromosomes, Mammalian,
pubmed-meshheading:20459838-Female,
pubmed-meshheading:20459838-Genomic Imprinting,
pubmed-meshheading:20459838-Humans,
pubmed-meshheading:20459838-KCNQ1 Potassium Channel,
pubmed-meshheading:20459838-Male,
pubmed-meshheading:20459838-Mice,
pubmed-meshheading:20459838-Mice, Knockout,
pubmed-meshheading:20459838-Placenta,
pubmed-meshheading:20459838-Pregnancy,
pubmed-meshheading:20459838-RNA, Untranslated
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pubmed:year |
2010
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pubmed:articleTitle |
Rescue of placental phenotype in a mechanistic model of Beckwith-Wiedemann syndrome.
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pubmed:affiliation |
Department of Medical Genetics, Molecular Epigenetics Group, Life Sciences Institute, University of British Columbia, Vancouver, Canada.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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