Linked Life Data

14724735

Source:http://linkedlifedata.com/resource/pubmed/id/14724735

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2004-1-15
pubmed:abstractText
Proximal mouse Chromosome (Chr) 11 shares regions of orthology with the candidate gene region for the imprinting growth disorder Silver-Russell syndrome (SRS) on human Chr 7p. It has previously been shown that mice with two maternal or two paternal copies (duplications, Dp) of proximal Chr 11 exhibit reciprocal growth phenotypes. Those with two paternal copies show fetal and placental overgrowth, while those with two maternal copies are growth retarded. The growth retardation observed in the latter is reminiscent of the intrauterine growth restriction (IUGR) observed in SRS patients with maternal uniparental disomy for Chr 7 (mUPD7). We have carried out a methylation-sensitive representational difference analysis (Me-RDA) screen to look for regions of differential methylation (DMRs) associated with imprinted genes. For these experiments, we have used mouse embryos with uniparental duplications of Chrs 11 and 7 proximal to the breakpoint of the reciprocal translocation T(7;11)40Ad. Two previously known imprinted loci associated with paternal allele hypomethylation were recovered on proximal mouse Chr 11, U2af1-rs1 and Meg1/Grb10. These two genes map 15 cM apart, so it seems likely that they are within separate imprinted domains that do not contain additional DMRs. The known imprinted gene Peg3, located on mouse proximal Chr 7, was also detected in our screen. The finding that Peg3 was differentially methylated in embryos with uniparental inheritance of proximal Chr 7 confirms that Peg3 is located proximal to the breakpoint of T40Ad in G-band 7A2. Because GRB10 has previously been reported to be a candidate gene for SRS, we analysed 22 patients for epimutations of the GRB10 differentially methylated region that could lead to the altered expression of this gene. No such mutations were found.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0938-8990
pubmed:author
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
805-16
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:14724735-Aneuploidy, pubmed-meshheading:14724735-Animals, pubmed-meshheading:14724735-Blotting, Southern, pubmed-meshheading:14724735-Chromosome Mapping, pubmed-meshheading:14724735-Chromosomes, Mammalian, pubmed-meshheading:14724735-Crosses, Genetic, pubmed-meshheading:14724735-DNA Methylation, pubmed-meshheading:14724735-Databases, Genetic, pubmed-meshheading:14724735-Disease Models, Animal, pubmed-meshheading:14724735-GRB10 Adaptor Protein, pubmed-meshheading:14724735-Gene Components, pubmed-meshheading:14724735-Genetic Testing, pubmed-meshheading:14724735-Genomic Imprinting, pubmed-meshheading:14724735-Growth Disorders, pubmed-meshheading:14724735-Humans, pubmed-meshheading:14724735-Kruppel-Like Transcription Factors, pubmed-meshheading:14724735-Mice, pubmed-meshheading:14724735-Mice, Mutant Strains, pubmed-meshheading:14724735-Mutagenesis, pubmed-meshheading:14724735-Protein Kinases, pubmed-meshheading:14724735-Proteins, pubmed-meshheading:14724735-Restriction Mapping, pubmed-meshheading:14724735-Sequence Analysis, DNA, pubmed-meshheading:14724735-Sulfites, pubmed-meshheading:14724735-Transcription Factors
pubmed:year
2003
pubmed:articleTitle
Imprinted methylation profiles for proximal mouse chromosomes 11 and 7 as revealed by methylation-sensitive representational difference analysis.
pubmed:affiliation
Institute of Reproductive and Developmental Biology, Imperial College London, Hammersmith Campus, Du Cane Road, London W12 0NN, UK. d.monk@ic.ac.uk
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't