rdf:type |
|
lifeskim:mentions |
umls-concept:C0004083,
umls-concept:C0018379,
umls-concept:C0020792,
umls-concept:C0035372,
umls-concept:C0208973,
umls-concept:C0242614,
umls-concept:C1414079,
umls-concept:C1417098,
umls-concept:C1517892,
umls-concept:C1521840,
umls-concept:C1521991,
umls-concept:C1704666,
umls-concept:C1999230
|
pubmed:issue |
7
|
pubmed:dateCreated |
2005-6-20
|
pubmed:abstractText |
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting almost exclusively girls. Although mutations in methyl-CpG-binding protein (MeCP2) are known to be associated with RTT, gene expression patterns are not significantly altered in MeCP2-deficient cells. A recent study1 identified MeCP2-mediated histone modification and formation of a higher-order chromatin loop structure specifically associated with silent chromatin at the Dlx5-Dlx6 locus in normal cells, and its absence thereof in RTT patients. This altered expression of Dlx5 through loss of silent chromatin loop formation provides a molecular mechanism underlying RTT and proposes a novel role for MeCP2 in chromatin organization and imprinting.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Chromatin,
http://linkedlifedata.com/resource/pubmed/chemical/Chromosomal Proteins, Non-Histone,
http://linkedlifedata.com/resource/pubmed/chemical/DLX5 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Histones,
http://linkedlifedata.com/resource/pubmed/chemical/Homeodomain Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/MECP2 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Methyl-CpG-Binding Protein 2,
http://linkedlifedata.com/resource/pubmed/chemical/Repressor Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
|
pubmed:status |
MEDLINE
|
pubmed:month |
Jul
|
pubmed:issn |
0265-9247
|
pubmed:author |
|
pubmed:copyrightInfo |
Copyright (c) 2005 Wiley Periodicals, Inc.
|
pubmed:issnType |
Print
|
pubmed:volume |
27
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
676-80
|
pubmed:dateRevised |
2005-11-17
|
pubmed:meshHeading |
pubmed-meshheading:15954098-Animals,
pubmed-meshheading:15954098-Chromatin,
pubmed-meshheading:15954098-Chromosomal Proteins, Non-Histone,
pubmed-meshheading:15954098-CpG Islands,
pubmed-meshheading:15954098-DNA-Binding Proteins,
pubmed-meshheading:15954098-Genomic Imprinting,
pubmed-meshheading:15954098-Histones,
pubmed-meshheading:15954098-Homeodomain Proteins,
pubmed-meshheading:15954098-Humans,
pubmed-meshheading:15954098-Methyl-CpG-Binding Protein 2,
pubmed-meshheading:15954098-Models, Genetic,
pubmed-meshheading:15954098-Repressor Proteins,
pubmed-meshheading:15954098-Rett Syndrome,
pubmed-meshheading:15954098-Transcription Factors
|
pubmed:year |
2005
|
pubmed:articleTitle |
Association by guilt: identification of DLX5 as a target for MeCP2 provides a molecular link between genomic imprinting and Rett syndrome.
|
pubmed:affiliation |
National Centre for Cell Science, Ganeshkhind, Pune, India.
|
pubmed:publicationType |
Journal Article,
Review
|