Cellular and Molecular Life Sciences CMLS

, Volume 62, Issue 4, pp 485–491

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

  • P. Mosesso
  • M. Piane
  • F. Palitti
  • G. Pepe
  • S. Penna
  • L. Chessa
Research Article

DOI: 10.1007/s00018-004-4441-0

Cite this article as:
Mosesso, P., Piane, M., Palitti, F. et al. CMLS, Cell. Mol. Life Sci. (2005) 62: 485. doi:10.1007/s00018-004-4441-0

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.

Key words.

DNA single-strand-break repairaprataxinchromosomal aberrationcamptothecininhibitor of DNA topoisomerase I

Copyright information

© Birkhäuser Verlag, Basel 2005

Authors and Affiliations

  • P. Mosesso
    • 1
  • M. Piane
    • 2
  • F. Palitti
    • 1
  • G. Pepe
    • 1
  • S. Penna
    • 1
  • L. Chessa
    • 2
  1. 1.Dipartimento di Agrobiologia e AgrochimicaUniversità degli Studi della TusciaViterboItaly
  2. 2.Dipartimento di Medicina Sperimentale e Patologia, II Facoltà di Medicina e ChirurgiaUniversità di Roma ‘La Sapienza’ c/o Ospedale Sant’AndreaRomeItaly