Source:http://linkedlifedata.com/resource/pubmed/id/11754049
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2001-12-25
|
| pubmed:abstractText |
Silver-Russell syndrome (SRS) is characterized by prenatal and postnatal growth retardation with morphologic anomalies. Maternal uniparental disomy 7 has been reported in some SRS patients. PEG1/MEST is an imprinted gene on chromosome 7q32 that is expressed only from the paternal allele and is a candidate gene for SRS. To clarify its biological function and role in SRS, we screened PEG1/MEST abnormalities in 15 SRS patients from various standpoints. In the lymphocytes of SRS patients, no aberrant expression patterns of two splice variants (alpha and beta) of PEG1/MEST were detected when they were compared with normal samples. Direct sequence analysis failed to detect any mutations in the PEG1/MEST alpha coding region, and there were no significant mutations in the 5'-flanking upstream region containing the predicted promoter and the highly conserved human/mouse genomic region. Differential methylation patterns of the CpG island for PEG1/MEST alpha were normally maintained and resulted in the same pattern as in the normal control, suggesting that there was no loss of imprinting. These findings suggest that PEG1/MEST can be excluded as a major determinant of SRS.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Dec
|
| pubmed:issn |
0148-7299
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| pubmed:author |
pubmed-author:ChinenYY,
pubmed-author:ImaizumiKK,
pubmed-author:IshinoFF,
pubmed-author:Kaneko-IshinoTT,
pubmed-author:KinoshitaE IEI,
pubmed-author:KishinoTT,
pubmed-author:KobayashiSS,
pubmed-author:KohdaTT,
pubmed-author:NagaiTT,
pubmed-author:NaritomiKK,
pubmed-author:NiikawaNN,
pubmed-author:OhashiHH,
pubmed-author:SugieSS,
pubmed-author:TanakaTT,
pubmed-author:TonokiHH,
pubmed-author:TsukaharaMM,
pubmed-author:TsutsumiOO,
pubmed-author:UemuraHH,
pubmed-author:YamadaMM
|
| pubmed:copyrightInfo |
Copyright 2001 Wiley-Liss, Inc.
|
| pubmed:issnType |
Print
|
| pubmed:day |
1
|
| pubmed:volume |
104
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
225-31
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:11754049-5' Flanking Region,
pubmed-meshheading:11754049-Abnormalities, Multiple,
pubmed-meshheading:11754049-Alternative Splicing,
pubmed-meshheading:11754049-DNA,
pubmed-meshheading:11754049-DNA Methylation,
pubmed-meshheading:11754049-Exons,
pubmed-meshheading:11754049-Genes,
pubmed-meshheading:11754049-Growth Disorders,
pubmed-meshheading:11754049-Humans,
pubmed-meshheading:11754049-Introns,
pubmed-meshheading:11754049-Molecular Sequence Data,
pubmed-meshheading:11754049-Mutation,
pubmed-meshheading:11754049-Proteins,
pubmed-meshheading:11754049-Sequence Analysis, DNA,
pubmed-meshheading:11754049-Syndrome
|
| pubmed:year |
2001
|
| pubmed:articleTitle |
No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients.
|
| pubmed:affiliation |
Gene Research Center, Tokyo Institute of Technology, 4259 Nagatsuka-cho, Midori-ku, Yokohama 226-8501, Japan.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|