The novel human gene aprataxin is directly involved in DNA single-strand-break repair.
Author(s)
Date Issued
2005
Type
Article
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.
Additional information
L'articolo è disponibile sul sito dell'editore: http://www.springerlink.com/
Citation
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
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