Source:http://linkedlifedata.com/resource/pubmed/id/10393442
Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3-4
|
| pubmed:dateCreated |
1999-7-22
|
| pubmed:abstractText |
DNA undermethylation is a characteristic feature of ICF syndrome and has been implicated in the formation of the juxtacentromeric chromosomal abnormalities of this rare syndrome. We have previously shown that in female ICF patients the inactive X chromosome (Xi) is also undermethylated. This result was unexpected since female ICF patients are not more severely affected than male patients. Here we show that CpG island methylation is abnormal in some ICF patients but in other ICF patients, the difference in methylation pattern between Xi and Xa (active X) is maintained. The consequences of Xi undermethylation on gene expression were investigated by enzyme assays. They showed that significant gene expression did not correlate with CpG island methylation status. The widespread Xi undermethylation does not affect overall Xi replication timing and does not prevent Barr body formation suggesting that a normal methylation pattern is not required for normal chromatin organization of Xi. Molecular investigation of some X-chromosome intron regions showed that the methylation changes in ICF female patients extend to non CpG islands sequences. Our results suggest that the genetic alteration of DNA methylation in ICF syndrome has little consequence on X chromosome gene expression and chromatin organization.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
0301-0171
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
84
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
245-52
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:10393442-Centromere,
pubmed-meshheading:10393442-Chromosome Aberrations,
pubmed-meshheading:10393442-Chromosome Disorders,
pubmed-meshheading:10393442-CpG Islands,
pubmed-meshheading:10393442-DNA Methylation,
pubmed-meshheading:10393442-DNA Replication,
pubmed-meshheading:10393442-Dosage Compensation, Genetic,
pubmed-meshheading:10393442-Enzymes,
pubmed-meshheading:10393442-Face,
pubmed-meshheading:10393442-Female,
pubmed-meshheading:10393442-Fibroblasts,
pubmed-meshheading:10393442-Gene Expression Regulation,
pubmed-meshheading:10393442-Genes,
pubmed-meshheading:10393442-Humans,
pubmed-meshheading:10393442-Immunologic Deficiency Syndromes,
pubmed-meshheading:10393442-Introns,
pubmed-meshheading:10393442-Leukocytes,
pubmed-meshheading:10393442-Male,
pubmed-meshheading:10393442-Sex Chromatin,
pubmed-meshheading:10393442-Syndrome,
pubmed-meshheading:10393442-X Chromosome
|
| pubmed:year |
1999
|
| pubmed:articleTitle |
Abnormal methylation does not prevent X inactivation in ICF patients.
|
| pubmed:affiliation |
U383 INSERM, Hôpital Necker-Enfants Malades, Paris, France.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|