Spontaneous and X-ray-induced chromosomal aberrations in Werner syndrome cells detected by FISH using chromosome-specific painting probes

• Published in: Mutagenesis 2000-07, Vol.15 (4), p.303-310
• Main Authors: Grigorova, M., Balajee, A.S., Natarajan, A.T.
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Biological effects of radiation; Cell Line; Cells, Cultured; chromosome 12; chromosome 5; Chromosome Aberrations; Chromosome Painting; Chromosomes - radiation effects; Chromosomes - ultrastructure; Chromosomes, Human, Pair 1 - radiation effects; Chromosomes, Human, Pair 12 - radiation effects; Chromosomes, Human, Pair 4 - radiation effects; Chromosomes, Human, Pair 5 - radiation effects; Dose-Response Relationship, Radiation; Fundamental and applied biological sciences. Psychology; Humans; In Situ Hybridization, Fluorescence - methods; Ionizing radiations; Microscopy, Fluorescence; Tissues, organs and organisms biophysics; Translocation, Genetic; Werner Syndrome - genetics; X-Rays
• ISSN: 0267-8357; 1464-3804; 1464-3804
• DOI: 10.1093/mutage/15.4.303

Werner syndrome (WS) is a rare autosomal disorder characterized by premature aging exhibiting chromosome instability and predisposition to cancer. Cells derived from WS patients show a variety of constitutionally stable chromosomal aberrations as detected by conventional chromosome banding techniques. We have employed the fluorescence in situ hybridization (FISH) technique using painting probes for 12 different chromosomes to detect stable chromosome exchanges in three WS cell lines and three control cell lines. WS cell lines showed increased frequencies of both stable and unstable chromosome aberrations detected by FISH and Giemsa staining, respectively. One WS lymphoblastoid cell line (KO375) had a 5/12 translocation in all the cells and ~60% of the cells had an additional translocated chromosome 12. A high frequency of aneuploid cells was found in all the WS cell lines studied. Though WS cells are known to be chromosomally unstable, unlike other chromosome instability syndromes they are not sensitive to mutagenic agents. We studied the frequencies of X-ray-induced chromosomal aberrations in two WS cell lines and found an ~60% increase in the frequencies of fragments and no consistent increase in the frequencies of exchanges.