| Full text | |
| Author(s): |
Moreno, Natalia Cestari
[1]
;
de Souza, Tiago Antonio
[1]
;
Machado Garcia, Camila Carriao
[2, 3]
;
Ruiz, Nathalia Quintero
[1]
;
Corradi, Camila
[1]
;
Castro, Ligia Pereira
[1]
;
Munford, Veridiana
[1]
;
Ienne, Susan
[1]
;
Alexandrov, Ludmil B.
[4, 5, 6]
;
Martins Menck, Carlos Frederico
[1]
Total Authors: 10
|
| Affiliation: | [1] Univ Sao Paulo, Inst Biomed Sci, Dept Microbiol, Sao Paulo, SP - Brazil
[2] Univ Fed Ouro Preto, NUPEB, Ouro Preto, MG - Brazil
[3] Univ Fed Ouro Preto, Biol Sci Dept, Ouro Preto, MG - Brazil
[4] Univ Calif San Diego, Dept Bioengn, La Jolla, CA 92093 - USA
[5] Univ Calif San Diego, Dept Cellular & Mol Med, La Jolla, CA 92093 - USA
[6] Univ Calif San Diego, Moores Canc Ctr, La Jolla, CA 92093 - USA
Total Affiliations: 6
|
| Document type: | Journal article |
| Source: | Nucleic Acids Research; v. 48, n. 4, p. 1941-1953, FEB 28 2020. |
| Web of Science Citations: | 0 |
| Abstract | |
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. (AU) | |
| FAPESP's process: | 14/15982-6 - Consequences of repair deficiencies in damaged genome |
| Grantee: | Carlos Frederico Martins Menck |
| Support Opportunities: | Research Projects - Thematic Grants |
| FAPESP's process: | 12/16929-6 - Effect of UVA light in cells from patients with variant Xeroderma pigmentosum |
| Grantee: | Natália Cestari Moreno |
| Support Opportunities: | Scholarships in Brazil - Doctorate |
| FAPESP's process: | 13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center |
| Grantee: | Mayana Zatz |
| Support Opportunities: | Research Grants - Research, Innovation and Dissemination Centers - RIDC |
| FAPESP's process: | 18/06619-6 - Application of bioinformatics in human mutagenesis studies using human exome data |
| Grantee: | Tiago Antonio de Souza |
| Support Opportunities: | Scholarships in Brazil - Technical Training Program - Technical Training |