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Clinical and cellular ionising radiation sensitivity in a patient with xeroderma pigmentosum.

Research output: Contribution to Journal/MagazineJournal articlepeer-review

Published
  • C. F. Arlett
  • P. N. Plowman
  • P. B. Rogers
  • C. N. Parris
  • F. Abbaszadeh
  • M. H. L. Green
  • T. J. McMillan
  • C. Bush
  • N. Foray
  • A. R. Lehmann
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<mark>Journal publication date</mark>06/2006
<mark>Journal</mark>British Journal of Radiology
Issue number942
Volume79
Number of pages8
Pages (from-to)510-517
Publication StatusPublished
<mark>Original language</mark>English

Abstract

XP14BR is a cell line derived from a xeroderma pigmentosum (XP) patient from complementation group C. The patient was unusual in presenting with an angiosarcoma of the scalp, treated by surgical excision and radiotherapy. Following 38 Gy in 19 fractions with 6 MEV electrons, a severe desquamation and necrosis of the underlying bone ensued, and death followed 4 years later. The cell line was correspondingly hypersensitive to the lethal effects of gamma irradiation. We had previously shown that this sensitivity could be discriminated from that seen in ataxia-telangiectasia (A-T). The cellular response to ultraviolet radiation below 280 nm (UVC) was characteristic of XP cells, indicating the second instance, in our experience, of dual cellular UVC and ionizing radiation hypersensitivity in XP. We then set out to evaluate any defects in repair of ionizing radiation damage and to verify any direct contribution of the XPC gene. The cells were defective in repair of a fraction of double strand breaks, with a pattern reminiscent of A-T. The cell line was immortalized with the vector pSV3neo and the XPC cDNA transfected in to correct the defect. The progeny derived from this transfection showed the presence of the XPC gene product, as measured by immunoblotting. A considerable restoration of normal UVC, but not ionizing radiation, sensitivity was observed amongst the clones. This differential correction of cellular sensitivity is strong evidence for the presence of a defective radiosensitivity gene, distinct from XPC, which is responsible for the clinical hypersensitivity to ionizing radiation. It is important to resolve how widespread ionizing radiation sensitivity is amongst XP patients.