| Autor: |
Anna Melchers, Lars Stöckl, Janina Radszewski, Marco Anders, Harald Krenzlin, Candy Kalischke, Regina Scholz, Andreas Jordan, Grit Nebrich, Joachim Klose, Karl Sperling, Martin Digweed, Ilja Demuth |
| Jazyk: |
angličtina |
| Rok vydání: |
2009 |
| Předmět: |
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| Zdroj: |
PLoS ONE, Vol 4, Iss 5, p e5423 (2009) |
| Druh dokumentu: |
article |
| ISSN: |
1932-6203 |
| DOI: |
10.1371/journal.pone.0005423 |
| Popis: |
BackgroundThe NBN gene codes for the protein nibrin, which is involved in the detection and repair of DNA double strand breaks (DSBs). The NBN gene is essential in mammals.Methodology/principal findingsWe have used a conditional null mutant mouse model in a proteomics approach to identify proteins with modified expression levels after 4 Gy ionizing irradiation in the absence of nibrin in vivo. Altogether, amongst approximately 8,000 resolved proteins, 209 were differentially expressed in homozygous null mutant mice in comparison to control animals. One group of proteins significantly altered in null mutant mice were those involved in oxidative stress and cellular redox homeostasis (pConclusions/significanceIn humans, biallelic hypomorphic mutations in NBN lead to Nijmegen breakage syndrome (NBS), an autosomal recessive genetic disease characterised by extreme radiosensitivity coupled with growth retardation, immunoinsufficiency and a very high risk of malignancy. This particularly high cancer risk in NBS may be attributable to the compound effect of a DSB repair defect and oxidative stress. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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