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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
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.
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ISSN: 1420-682X
DOI: 10.1007/s00018-004-4441-0
Appears in Collections:DABAC - Archivio della produzione scientifica

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