Navegando por Autor "Corradi, Camila"
Agora exibindo 1 - 1 de 1
Resultados por página
Opções de Ordenação
Item Whole-exome sequencing reveals the impact of UVA light mutagenesis in xeroderma pigmentosum variant human cells.(2020) Moreno, Natália Cestari; Souza, Tiago Antonio de; Garcia, Camila Carrião Machado; Quintero Ruiz, Nathalia; Corradi, Camila; Castro, Ligia Pereira; Munford, Veridiana; Ienne, Susan; Alexandrov, Ludmil B.; Menck, Carlos Frederico MartinsUVA-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.