Journal
NUCLEIC ACIDS RESEARCH
Volume 48, Issue 4, Pages 1941-1953Publisher
OXFORD UNIV PRESS
DOI: 10.1093/nar/gkz1182
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Funding
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP, Sao Paulo, Brazil) [2014/15982-6, 2012/16929-6, 2013/08028-1, 2018/06619-6]
- Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq, Brasilia, DF, Brazil) [308868/2018-8, 150049/2018-8, 141411/2017]
- Coordenacao de Aperfeicoamento de Pessoal do Ensino Superior (CAPES, Brasilia, DF, Brazil) [001]
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)
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UVA-induced mutagenesis was investigated in human pol eta-deficient (XP-V) cells through whole-exome sequencing. In UVA-irradiated cells, the increase in the mutation frequency in deficient cells included a remarkable contribution of C>T transitions, mainly at potential pyrimidine dimer sites. A strong contribution of C>A transversions, potentially due to oxidized bases, was also observed in non-irradiated XP-V cells, indicating that basal mutagenesis caused by oxidative stress may be related to internal tumours in XP-V patients. The low levels of mutations involving T induced by UVA indicate that pol eta is not responsible for correctly replicating T-containing pyrimidine dimers, a phenomenon known as the 'A-rule'. Moreover, the mutation signature profile of UVA-irradiated XP-V cells is highly similar to the human skin cancer profile, revealing how studies involving cells deficient in DNA damage processing may be useful to understand the mechanisms of environmentally induced carcinogenesis.
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