Linked Life Data

17363207

Source:http://linkedlifedata.com/resource/pubmed/id/17363207

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2007-8-16
pubmed:abstractText
Rett syndrome (RTT) is an X-linked severe neurodevelopmental disorder mostly affecting female and is mainly caused by mutations of methyl-CpG-binding protein 2 gene (MECP2). MECP2, which has a crucial role for transcriptional repression and chromatin remodeling, consists of methyl-CpG binding domain (MBD) and transcriptional repression domain (TRD). Paternally imprinted distal-less homeobox gene 5 (DLX5), that has an important role for the development of gamma-aminobutyric acid (GABA)-ergic neurons, was identified as a target of MECP2 recently. We selected the 12 samples from the 40 RTT lymphoblast cell lines by a mononucleotide repeat polymorphism within the 3'UTR of DLX5. In 12 samples, 5 and 6 samples have the mutations located in MBD and TRD, respectively. No expression and 25-75% expression of the mutated MECP2 allele were detected in 4 samples with MBD mutation and 4 samples with TRD mutation. In this study, the expression of mutated MECP2 alleles was low especially in the samples with the MBD mutation suggesting the biased frequency of the cells during the culture. However, a sample with high expression of mutated MECP2 in TRD mutation showed bialleic expression of DLX5 suggesting loss of imprinting.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0387-7604
pubmed:author
pubmed:issnType
Print
pubmed:volume
29
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
491-5
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome.
pubmed:affiliation
Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, 86 Nishicho, Yonago, Tottori 683-8503, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't