Linked Life Data

17321697

Source:http://linkedlifedata.com/resource/pubmed/id/17321697

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2007-3-12
pubmed:databankReference
pubmed:abstractText
22q11 deletion syndrome (22q11DS) is a developmental anomaly caused by a microdeletion on human chromosome 22q11. Although mouse models indicate that Tbx1 is the gene responsible for the syndrome, the phenotypic spectrum of del22q11 patients is complex suggesting that gene-gene and gene-environment interactions are operative in delineating the pathogenesis of 22q11DS. In order to study the regulatory effects of 22q11 haploinsufficiency during development, the expression pattern of the orthologous MM16 genes was analysed in total embryos at different stages (from 4.5 dpc to 14.5 dpc; corresponding to pharyngeal development) by using a low-density oligonucleotide microarray (the "22q11DS-chip"). This microarray consists of 39 mouse genes orthologous to the 22q11 human ones and 29 mouse target genes selected on the basis of their potential involvement in biological pathways regarding 22q11 gene products. Expression level filtering and statistical analysis identified a set of genes that was consistently differentially expressed (FC>+/-2) during specific developmental stages. These genes show a similar profile in expression (overexpression or underexpression). Quantitative real-time PCR analyses showed an identical expression pattern to that found by microarrays. A bioinformatic screening of regulative sequence elements in the promoter region of these genes, revealed the existence of conserved transcription factor binding sites (TFBSs) in co-regulated genes which are functionally active at 4.5, 8.5 and 14.5 dpc. These data are likely to be helpful in studying developmental anomalies detected in del22q11 patients.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0378-1119
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
391
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
91-102
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Dynamic changes in gene expression profiles of 22q11 and related orthologous genes during mouse development.
pubmed:affiliation
Department of Biopathology and Diagnostic Imaging, Tor Vergata University, Rome, Italy. amati@med.uniroma2.it
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't