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Title: | The novel human gene aprataxin is directly involved in DNA single-strand-break repair. | Authors: | Mosesso, Pasquale Piane, Maria Palitti, Fabrizio Pepe, Gaetano Penna, Sabrina Chessa, Luciana |
Keywords: | DNA single-strand-break repair;Aprataxin;Chromosomal aberration;Camptothecin;Inhibitors of DNA topoisomerase I;Riparazione delle rotture a singolo filamento;Apratassina;Aberrazioni cromosomiche;Camptotecina;Inibitori delle DNA topoisomerasi | Issue Date: | 2005 | Publisher: | Birkhäuser Verlag | Source: | Mosesso, P. et al. 2005. The novel human gene aprataxin is directly involved in DNA single-strand-break repair. "Cellular and Molecular Life Sciences" 62(4): 485-491 | Abstract: | The cells of an ataxia-oculomotor apraxia type 1 (AOA1) patient, homozygous for a new aprataxin mutation (T739C), were treated with camptothecin, an inhibitor of DNA topoisomerase I which induces DNA single-strand breaks. DNA damage was evaluated by cytogenetic analysis of chromosomal aberrations. The results obtained showed marked and dose-related increases in induced chromosomal aberrations in the patient and her heterozygous mother compared to the intrafamilial wild-type control. The alkaline comet assay confirmed this pattern. Moreover, the AOA1 cells did not show hypersensitivity to ionizing radiation, i.e. X-rays. These findings clearly indicate the direct involvement of aprataxin in the DNA single-strand-break repair machinery. |
Description: | L'articolo è disponibile sul sito dell'editore: http://www.springerlink.com/ |
URI: | http://hdl.handle.net/2067/1343 | ISSN: | 1420-682X | DOI: | 10.1007/s00018-004-4441-0 |
Appears in Collections: | DABAC - Archivio della produzione scientifica |
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Mosesso et al., CMLS-1.pdf | 82.97 kB | Adobe PDF | View/Open |
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