Linked Life Data

11267829

Source:http://linkedlifedata.com/resource/pubmed/id/11267829

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2001-3-27
pubmed:abstractText
Nijmegen breakage syndrome (NBS) and ataxia telangiectasia (AT) are rare autosomal recessive hereditary disorders characterized by radiosensitivity, chromosomal instability, immunodeficiency and proneness to cancer. Although the clinical features of both syndromes are quite distinct, the cellular characteristics are very similar. Cells from both NBS and AT patients are hypersensitive to ionizing radiation (IR), show elevated levels of chromosomal aberrations and display radioresistant DNA synthesis (RDS). The proteins defective in NBS and AT, NBS1 and ATM, respectively, are involved in the same pathway, but their exact relationship is not yet fully understood. Stumm et al. (Am. J. Hum. Genet. 60 (1997) 1246) have reported that hybrids of AT and NBS lymphoblasts were not complemented for chromosomal aberrations. In contrast, we found that X-ray-induced cell killing as well as chromosomal aberrations were complemented in proliferating NBS-1LBI/AT5BIVA hybrids, comparable to that in NBS-1LBI cells after transfer of a single human chromosome 8 providing the NBS1 gene. RDS observed in AT5BIVA cells was reduced in these hybrids to the level of that seen in immortal NBS-1LBI cells. However, the level of DNA synthesis, following ionizing radiation, in SV40 transformed wild-type cell lines was the same as in NBS-1LBI cells. Only primary wild-type cells showed stronger inhibition of DNA synthesis. In summary, these results clearly indicate that RDS cannot be used as an endpoint in functional complementation studies with immortal NBS-1LBI cells, whereas the cytogenetic assay is suitable for complementation studies with immortal AT and NBS cells.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
0027-5107
pubmed:author
pubmed:issnType
Print
pubmed:day
4
pubmed:volume
485
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
177-85
pubmed:dateRevised
2011-11-2
pubmed:meshHeading
pubmed-meshheading:11267829-Abnormalities, Multiple, pubmed-meshheading:11267829-Animals, pubmed-meshheading:11267829-Ataxia Telangiectasia, pubmed-meshheading:11267829-Cell Cycle Proteins, pubmed-meshheading:11267829-Cell Death, pubmed-meshheading:11267829-Chromosome Aberrations, pubmed-meshheading:11267829-DNA Replication, pubmed-meshheading:11267829-DNA-Binding Proteins, pubmed-meshheading:11267829-Dose-Response Relationship, Radiation, pubmed-meshheading:11267829-Genetic Complementation Test, pubmed-meshheading:11267829-Genetic Predisposition to Disease, pubmed-meshheading:11267829-Humans, pubmed-meshheading:11267829-Hybrid Cells, pubmed-meshheading:11267829-Mice, pubmed-meshheading:11267829-Nuclear Proteins, pubmed-meshheading:11267829-Protein-Serine-Threonine Kinases, pubmed-meshheading:11267829-Radiation Tolerance, pubmed-meshheading:11267829-Syndrome, pubmed-meshheading:11267829-Tumor Suppressor Proteins, pubmed-meshheading:11267829-X-Rays
pubmed:year
2001
pubmed:articleTitle
Complementation of chromosomal aberrations in AT/NBS hybrids: inadequacy of RDS as an endpoint in complementation studies with immortal NBS cells.
pubmed:affiliation
Department of Radiation Genetics and Chemical Mutagenesis - MGC, Wassenaarseweg 72, 2333 AL, Leiden University Medical Center, Leiden, The Netherlands.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't