Chromosome instability in lymphocytes from a patient with Werner's syndrome is not associated with DNA repair defects

M. Stefanini, S. Scappaticci, P. Lagomarsini, G. Borroni, E. Berardesca, F. Nuzzo

Research output: Contribution to journalArticle

Abstract

Different cellular parameters used to detect genetic instability were analyzed in lymphocytes from a patient affected by Werner's syndrome (WS). Cytogenetic studies indicated the presence of structural and numerical chromosomal abnormalities and the occurrence of variegated translocation mosaicism. The baseline mutation frequency was similar to that observed in normal donor samples. DNA repair investigations showing a normal capability to perform UV-induced DNA repair synthesis and a normal sensitivity to various mutagens (UVC light, mono- and bi-functional alkylating agents) indicate that different DNA repair mechanisms act normally in WS. In this feature, WS appears to differ from the other genetically determined syndromes in which chromosomal instability is associated with a marked hypersensitivity to specific DNA-damaging agents.

Original languageEnglish
Pages (from-to)179-185
Number of pages7
JournalMutation Research DNAging
Volume219
Issue number3
DOIs
Publication statusPublished - 1989

Keywords

  • Chromosome instability
  • DNA repair
  • Tumor development
  • Werner's syndrome

ASJC Scopus subject areas

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

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