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Cell Mol Life Sci. 2005 Feb;62(4):485-91.

The novel human gene aprataxin is directly involved in DNA single-strand-break repair.

Author information

1
Dipartimento di Agrobiologia e Agrochimica, Università degli Studi della Tuscia, Via San Camino de Lellis s.n.c., 01100 Viterbo, Italy. mosesso@unitus.it.

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.

PMID:
15719174
DOI:
10.1007/s00018-004-4441-0
[Indexed for MEDLINE]

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