Accepted_test

Does G-Quadruplexes formation elevate the mutation density in its neighborhoods in the human genome?

by Vera Panova | Andrei Alexeevski | Maria Zvereva | Department of Bioengineering and Bioinformatics, Lomonosov Moscow State University | Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University; Department of Mathematics, Scientific Research Institute for System Studies, Russian Academy of Sciences | Department of Chemistry, Lomonosov Moscow State University,

Abstract ID: 286

Event: BGRS-abstracts

Sections: [Sym 1] Section “Structural-functional organization of genomes and transcriptomics”

The origin of cancerous processes stems from a diverse range of mutations found in both somatic cells and germ lines. It is well known that promoter mutations in oncogenes play a significant role in the development and progression of cancer. Three G-quadruplexes (G4s) are formed in vitro from the hTERT gene promoter in a 96-nt DNA sample, even in the presence of single or double specific mutations in G-quadruplex (G4). G4 binds to the MutL component of the MMR repair system. This reduces the efficiency of repair of incorrectly paired bases compared to dsDNA.

The study aims to test the hypothesis that the formation of G4 leads to an increase in the frequency of mutations in the neighborhoods of G4.

We found that the formation of G4 leads to an increase in the frequency of dbSNP mutations in the neighborhoods of G4. It is necessary to check our hypothesis on COSMIC data.