Source:http://linkedlifedata.com/resource/pubmed/id/16397868
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
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| pubmed:dateCreated |
2006-1-23
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| pubmed:abstractText |
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurobehavioral disorders resulting from deficiency of imprinted gene expression from paternal or maternal chromosome 15q11-15q13, respectively. In humans, expression of the imprinted genes is under control of a bipartite cis-acting imprinting center (IC). Families with deletions causing PWS imprinting defects localize the PWS-IC to 4.3 kb overlapping with SNRPN exon 1. Families with deletions causing AS imprinting defects localize the AS-IC to 880 bp 35 kb upstream of the PWS-IC. We report two mouse mutations resulting in defects similar to that seen in AS patients with deletion of the AS-IC. An insertion/duplication mutation 13 kb upstream of Snrpn exon 1 resulted in lack of methylation at the maternal Snrpn promoter, activation of maternally repressed genes, and decreased expression of paternally repressed genes. The acquisition of a paternal epigenotype on the maternal chromosome in the mutant mice was demonstrated by the ability to rescue the lethality and growth retardation in a mouse model of a PWS imprinting defect. A second mutation, an 80-kb deletion extending upstream of the first mutation, caused a similar imprinting defect with variable penetrance. These results suggest that there is a mouse functional equivalent to the human AS-IC.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Autoantigens,
http://linkedlifedata.com/resource/pubmed/chemical/DNA Primers,
http://linkedlifedata.com/resource/pubmed/chemical/Ribonucleoproteins, Small Nuclear,
http://linkedlifedata.com/resource/pubmed/chemical/SNRPN protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/snRNP Core Proteins
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| pubmed:status |
MEDLINE
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| pubmed:month |
Jan
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| pubmed:issn |
1526-954X
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| pubmed:author | |
| pubmed:copyrightInfo |
(c) 2006 Wiley-Liss, Inc.
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| pubmed:issnType |
Print
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| pubmed:volume |
44
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| pubmed:owner |
NLM
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| pubmed:authorsComplete |
Y
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| pubmed:pagination |
12-22
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| pubmed:dateRevised |
2008-11-21
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| pubmed:meshHeading |
pubmed-meshheading:16397868-Angelman Syndrome,
pubmed-meshheading:16397868-Animals,
pubmed-meshheading:16397868-Autoantigens,
pubmed-meshheading:16397868-Base Sequence,
pubmed-meshheading:16397868-Blotting, Southern,
pubmed-meshheading:16397868-Blotting, Western,
pubmed-meshheading:16397868-Chromosome Mapping,
pubmed-meshheading:16397868-Chromosomes, Human, Pair 15,
pubmed-meshheading:16397868-DNA Primers,
pubmed-meshheading:16397868-Female,
pubmed-meshheading:16397868-Genomic Imprinting,
pubmed-meshheading:16397868-Humans,
pubmed-meshheading:16397868-Male,
pubmed-meshheading:16397868-Mice,
pubmed-meshheading:16397868-Mutation,
pubmed-meshheading:16397868-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:16397868-Ribonucleoproteins, Small Nuclear,
pubmed-meshheading:16397868-snRNP Core Proteins
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| pubmed:year |
2006
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| pubmed:articleTitle |
Mouse imprinting defect mutations that model Angelman syndrome.
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| pubmed:affiliation |
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.
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| pubmed:publicationType |
Journal Article
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