Linked Life Data

12606941

Source:http://linkedlifedata.com/resource/pubmed/id/12606941

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2003-2-27
pubmed:abstractText
Cockayne syndrome (CS) is a human hereditary disease belonging to the group of segmental progerias, and the clinical phenotype is characterized by postnatal growth failure, neurological dysfunction, cachetic dwarfism, photosensitivity, sensorineural hearing loss, and retinal degradation. CS-B cells are defective in transcription-coupled DNA repair, base excision repair, transcription, and chromatin structural organization. Using array analysis, we have examined the expression profile in CS complementation group B (CS-B) fibroblasts after exposure to oxidative stress (H2O2) before and after complete complementation with the CSB gene. The following isogenic cell lines were compared: CS-B cells (CS-B null), CS-B cells complemented with wild-type CSB (CS-B wt), and a stably transformed cell line with a point mutation in the ATPase domain of CSB (CS-B ATPase mutant). In the wt rescued cells, we detected significant induction (two-fold) of 112 genes out of the 6912 analysed. The patterns suggested an induction or upregulation of genes involved in several DNA metabolic processes including DNA repair, transcription, and signal transduction. In both CS-B mutant cell lines, we found a general deficiency in transcription after oxidative stress, suggesting that the CSB protein influenced the regulation of transcription of certain genes. Of the 6912 genes, 122 were differentially regulated by more than two-fold. Evidently, the ATPase function of CSB is biologically important as the deficiencies seen in the ATPase mutant cells are very similar to those observed in the CS-B-null cells. Some major defects are in the transcription of genes involved in DNA repair, signal transduction, and ribosomal functions.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0950-9232
pubmed:author
pubmed:issnType
Print
pubmed:day
27
pubmed:volume
22
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1135-49
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed-meshheading:12606941-Adenosine Triphosphatases, pubmed-meshheading:12606941-Blotting, Northern, pubmed-meshheading:12606941-Cell Line, pubmed-meshheading:12606941-Cell Line, Transformed, pubmed-meshheading:12606941-Cockayne Syndrome, pubmed-meshheading:12606941-DNA Helicases, pubmed-meshheading:12606941-DNA Repair, pubmed-meshheading:12606941-DNA Repair Enzymes, pubmed-meshheading:12606941-DNA Replication, pubmed-meshheading:12606941-Fibroblasts, pubmed-meshheading:12606941-Gene Expression Profiling, pubmed-meshheading:12606941-Gene Expression Regulation, pubmed-meshheading:12606941-Genetic Complementation Test, pubmed-meshheading:12606941-Humans, pubmed-meshheading:12606941-Hydrogen Peroxide, pubmed-meshheading:12606941-Oligonucleotide Array Sequence Analysis, pubmed-meshheading:12606941-Oxidative Stress, pubmed-meshheading:12606941-Recombinant Fusion Proteins, pubmed-meshheading:12606941-Reproducibility of Results, pubmed-meshheading:12606941-Signal Transduction, pubmed-meshheading:12606941-Transcription, Genetic, pubmed-meshheading:12606941-Transfection
pubmed:year
2003
pubmed:articleTitle
The transcriptional response after oxidative stress is defective in Cockayne syndrome group B cells.
pubmed:affiliation
Laboratory of Molecular Gerontology, National Institute on Aging, 5600 Nathan Schock Drive, National Institute of Health, Baltimore, MD 21224, USA.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, Non-U.S. Gov't, Validation Studies