Moreno, Natália CestariSouza, Tiago Antonio deGarcia, Camila Carrião MachadoQuintero Ruiz, NathaliaCorradi, CamilaCastro, Ligia PereiraMunford, VeridianaIenne, SusanAlexandrov, Ludmil B.Menck, Carlos Frederico Martins2021-09-302021-09-302020MORENO, N. C. et al. Whole-exome sequencing reveals the impact of UVA light mutagenesis in xeroderma pigmentosum variant human cells. Nucleic Acids Research, v. 48, n. 4, p. 1941-1953, 2020. Disponível em: <https://academic.oup.com/nar/article/48/4/1941/5680704>. Acesso em: 10 jun. 2021.1362-4962http://www.repositorio.ufop.br/jspui/handle/123456789/13837UVA-induced mutagenesis was investigated in human pol eta-deficient (XP-V) cells through wholeexome 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 nonirradiated 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 Tcontaining 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.en-USabertoArtigo publicado em periodicoThis is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. Fonte: o PDF do artigo.https://doi.org/10.1093/nar/gkz1182