Clonal chromosome rearrangements in a fibroblast strain from a patient affected by xeroderma pigmentosum (complementation group C)

F. Nuzzo, P. Lagomarsini, A. Casati, R. Giorgi, E. Berardesca, M. Stefanini

Research output: Contribution to journalArticlepeer-review

Abstract

We report the results of DNA repair studies and cytogenetic investigations in a patient presenting acute photosensitivity and cancerous skin lesions. In lymphocytes and fibroblasts a reduced level of unscheduled DNA synthesis after UV irradiation was found and the presence of xeroderma pigmentosum, complementation group C, mutation was demonstrated by complementation analysis. In lymphocyte and fibroblast cultures the frequency of spontaneous chromosome gaps and breaks was normal, whereas the frequency of chromosome rearrangements was higher than expected. In fibroblasts from the 4th to the 18th passage of the culture, 4 reciprocal translocations with a clonal distribution were identified. The rearranged chromosomes were Nos. 2, 13, 14 and 15, Nos. 2 and 13 being both involved in 3 different translocations with breakpoints at 2q21, 2q31, 2p23 and 13q31, 13q12 or 3. The biological significance of this finding is discussed in view of a possible correlation with the DNA repair defect and a possible relevance in tumor development of specific chromosome rearrangements.

Original languageEnglish
Pages (from-to)209-215
Number of pages7
JournalMutation Research DNAging
Volume219
Issue number4
DOIs
Publication statusPublished - 1989

Keywords

  • Clonal chromosome rearrangements
  • DNA repair
  • Xeroderma pigmentosum

ASJC Scopus subject areas

  • Ageing
  • Genetics
  • Molecular Biology
  • Medicine(all)

Fingerprint Dive into the research topics of 'Clonal chromosome rearrangements in a fibroblast strain from a patient affected by xeroderma pigmentosum (complementation group C)'. Together they form a unique fingerprint.

Cite this