Chromosome instability in lymphocytes from a patient with Werner's syndrome is not associated with DNA repair defects.
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.
Stefanini
M
M
Istituto di Genetica Biochimica ed Evoluzionistica del C.N.R., Università di Pavia, Italy.
Scappaticci
S
S
Lagomarsini
P
P
Borroni
G
G
Berardesca
E
E
Nuzzo
F
F
D002478:Cells, Cultured; D002877:Chromosomes, Human / Q000648:ultrastructure*; D004260:DNA Repair; D004261:DNA Replication / Q000187:drug effects / Q000528:radiation effects; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000187:drug effects / Q000473:pathology*; D008938:Mitosis; D009153:Mutagens / Q000494:pharmacology; D014466:Ultraviolet Rays; D014898:Werner Syndrome / Q000097:blood / Q000235:genetics*
D009153:Mutagens