Source:http://linkedlifedata.com/resource/pubmed/id/15744456
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2005-4-18
|
| pubmed:abstractText |
Human chromosome 15q11-q13 involves a striking imprinted gene cluster of more than 2 Mb that is concomitant with multiple neurological disorders manifested by Prader-Willi syndrome (PWS) and Angelman syndrome (AS). PWS and AS patients with imprinting mutation have microdeletions, which share a 4.3 kb short region of overlap (SRO) at the 5' end of the paternal SNURF-SNRPN gene in PWS, or on the maternal allele, which shares a 880 bp SRO located at the 35 kb upstream of the SNURF-SNRPN promoter in AS. Recent studies have revealed an essential role of PWS-SRO in the postzygotic maintenance of the appropriate epigenotype on the paternal chromosome. For AS-SRO, however, there is insufficient experimental evidence exists to determine the direct functions. Here we show that the complete deletion of AS-SRO does not cause any anomalies of imprinted gene expression or DNA methylation on the mutated human chromosome 15, further supporting the idea that AS-SRO is dispensable for post implantation imprint maintenance. This implies that AS-SRO is not essential for the robust epigenotype preservation in somatic cells.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
1434-5161
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
50
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
124-32
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| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:15744456-Angelman Syndrome,
pubmed-meshheading:15744456-Animals,
pubmed-meshheading:15744456-Blotting, Southern,
pubmed-meshheading:15744456-Cells, Cultured,
pubmed-meshheading:15744456-Chromosomes, Human, Pair 15,
pubmed-meshheading:15744456-Cytogenetic Analysis,
pubmed-meshheading:15744456-DNA Methylation,
pubmed-meshheading:15744456-DNA Primers,
pubmed-meshheading:15744456-Gene Deletion,
pubmed-meshheading:15744456-Gene Expression Regulation,
pubmed-meshheading:15744456-Gene Transfer Techniques,
pubmed-meshheading:15744456-Genomic Imprinting,
pubmed-meshheading:15744456-Humans,
pubmed-meshheading:15744456-Mice,
pubmed-meshheading:15744456-Mutation,
pubmed-meshheading:15744456-Nuclear Proteins,
pubmed-meshheading:15744456-Reverse Transcriptase Polymerase Chain Reaction
|
| pubmed:year |
2005
|
| pubmed:articleTitle |
Narrowed abrogation of the Angelman syndrome critical interval on human chromosome 15 does not interfere with epigenotype maintenance in somatic cells.
|
| pubmed:affiliation |
Division of Molecular and Cell Genetics, Department of Molecular and Cellular Biology, School of Life Sciences, Faculty of Medicine, Tottori University, Tottori, Japan.
|
| pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|