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UV mutation spectra in cell lines from patients with Cockayne's syndrome and ataxia telangiectasia, using the shuttle vector pZ189
Abstract
We have used the SV40-based shuttle vector pZ189 to determine ultraviolet mutation spectra in SV40-transformed cell lines from two patients with Cockayne's syndrome (CS) and ataxia telangiectasia (AT). The shuttle vector was UV-irradiated, transfected into the cells and recovered two days later, after many rounds of replication had occurred. Plasmid DNA was used to transform indicator bacteria in which plasmids containing a mutation in the supF gene resulted in white colonies. Mutant plasmids were analysed both by agarose gels and by DNA sequencing. In contrast to published spectra for xeroderma pigmentosum cells, the types of mutation induced by UV mutation in the CS and AT cell lines were similar to each other and to published spectra for normal cell lines. There were however, some differences in the sequence distribution of the mutations.
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These results validate the use of duplex sequencing for the detection of UV-induced mutagenesis.
“These results are consistent with previous reports of UV-induced mutagenesis in reporter genes (11, 13 -15) and validate our use of duplex sequencing for the detection of UV-induced mutagenesis.”
From Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency (2016) · cites this paper as [15]
An episomal plasmid (pZ189), irradiated with UV and passed through CS cells, showed increased levels of mutations.
“In contrast, an episomal plasmid (pZ189), irradiated with UV and passed through CS cells, showed increased levels of mutations (14, 15).”
From Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency (2016) · cites this paper as [15]
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References 21 · Cited by 21
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Metadata
- Authors
- Muriel, W. J., Lamb, J. R., & Lehmann, A. R.
- Affiliations
- University of Sussex (GB)
- Corresponding author
- Lehmann, A.R.
- Venue
- Mutation Research/DNA Repair
- Publisher
- Elsevier BV
- Published
- 1991-03
- Volume
- 254
- Issue
- 2
- Pages
- 119-123
- ISSN
- 0921-8777 (ISSN-L)
- OpenAlex
- W1991850993
- Cited by
- 21
- References
- 21
- Citations by year
- 2017: 1 · 2016: 2
- FWCI
- 0.93
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Mutation Research/DNA Repair (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Carcinogens and Genotoxicity Assessment
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- Cockayne syndrome, ataxia telangiectasia, UV-induced mutations, DNA repair deficiency, xeroderma pigmentosum
- MeSH terms
- Ataxia Telangiectasia, Base Sequence, Cell Line, Cockayne Syndrome, DNA, DNA Mutational Analysis, DNA Repair, Genetic Vectors, Molecular Sequence Data, Sequence Homology, Nucleic Acid, Simian virus 40, Transfection, Transformation, Genetic, Ultraviolet Rays, In Vitro Techniques
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