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"Expression pattern of the Nijmegen breakage syndrome gene, Nbs1, during murine development." |
Wilda M, Demuth I, Concannon P, Sperling K, Hameister H |
Published July 22, 2000 in Hum Mol Genet volume 9 .
Pubmed ID: 10915761
Abstract:
| The Nijmegen breakage syndrome (NBS; MIM 251260), is an autosomal recessive disease characterized by microcephaly, growth retardation, immuno-deficiency and cancer predisposition. NBS cells show spontaneous chromosomal instability and hypersensitivity to ionizing radiation in combination with radioresistant DNA synthesis. At the cellular level, NBS has some features in common with ataxia teleangiectasia. In this study the murine Nbs1 gene was used for an expression study in mouse embryos at different developmental stages as well as in adult mice. A low level of expression is observed in all tissues. Highly specific expression was observed in organs with physiologic DNA double strand breakage (DSB), such as testis, thymus and spleen. Enhanced expression is also found at sites of high proliferative activity. These are the subventricular layer of the telencephalon and the diencephalon, the liver, lung, kidney and gut, as well as striated and smooth muscle cells in various organs. In the adult cerebellum the postmitotic Purkinje cells are marked specifically. These expression patterns suggest that in addition to the role of the Nbs1 gene product as part of a DNA DSB repair complex, the Nbs1 gene product may serve further functions during development. |
This publication refers to following REPAIRtoire entries:
| Proteins |
Last modification of this entry: Oct. 6, 2010
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