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31.
Nbs1 is essential for DNA repair by homologous recombination in higher vertebrate cells 总被引:33,自引:0,他引:33
Tauchi H Kobayashi J Morishima K van Gent DC Shiraishi T Verkaik NS vanHeems D Ito E Nakamura A Sonoda E Takata M Takeda S Matsuura S Komatsu K 《Nature》2002,420(6911):93-98
Double-strand breaks occur during DNA replication and are also induced by ionizing radiation. There are at least two pathways which can repair such breaks: non-homologous end joining and homologous recombination (HR). Although these pathways are essentially independent of one another, it is possible that the proteins Mre11, Rad50 and Xrs2 are involved in both pathways in Saccharomyces cerevisiae. In vertebrate cells, little is known about the exact function of the Mre11-Rad50-Nbs1 complex in the repair of double-strand breaks because Mre11- and Rad50-null mutations are lethal. Here we show that Nbs1 is essential for HR-mediated repair in higher vertebrate cells. The disruption of Nbs1 reduces gene conversion and sister chromatid exchanges, similar to other HR-deficient mutants. In fact, a site-specific double-strand break repair assay showed a notable reduction of HR events following generation of such breaks in Nbs1-disrupted cells. The rare recombinants observed in the Nbs1-disrupted cells were frequently found to have aberrant structures, which possibly arise from unusual crossover events, suggesting that the Nbs1 complex might be required to process recombination intermediates. 相似文献
32.
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome 总被引:17,自引:0,他引:17
Mnatzakanian GN Lohi H Munteanu I Alfred SE Yamada T MacLeod PJ Jones JR Scherer SW Schanen NC Friez MJ Vincent JB Minassian BA 《Nature genetics》2004,36(4):339-341
Rett syndrome is caused by mutations in the gene MECP2 in approximately 80% of affected individuals. We describe a previously unknown MeCP2 isoform. Mutations unique to this isoform and the absence, until now, of identified mutations specific to the previously recognized protein indicate an important role for the newly discovered molecule in the pathogenesis of Rett syndrome. 相似文献
33.