Regulatory Potential of SNP Markers in the Genes of DNA Repair Systems

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In non-coding regions of the genome, the widest range of SNP markers associated with human diseases and petrogenetically significant features were identified. This raised the critical question of identifying the mechanisms that explain these associations. Previously, we identified a number of associations of polymorphic variants of genes encoding DNA repair proteins with multifactorial diseases. To clarify the possible mechanisms underlying established associations, we carried out a detailed annotation of the regulatory potential of the studied markers using a number of on-line resources (GTXPortal, VannoPortal, Ensemble, RegulomeDB, Polympact, UCSC, GnomAD, ENCODE, GeneHancer, EpiMap Epigenomics 2021, HaploReg, GWAS4D, JASPAR, ORegAnno, DisGeNet, OMIM). The article characterizes the regulatory potential of polymorphic variants rs560191 (in the TP53BP1 gene), rs1805800 and rs709816 (in the NBN gene), rs473297 (MRE11), rs189037 and rs1801516 (ATM), rs1799977 (MLH1), rs1805321 (PMS2), rs20579 (LIG1). Both the general characteristics of the studied markers and information on their influence on the expression of “own” and co-regulated genes, on changes in binding affinity of transcription factors are given. Known data on both adaptogenic and pathogenicity potential of these SNPs and on histone modifications co-localized with them are presented. The potential involvement in regulatory function of not only genes that contain SNPs studied but also nearby genes may explain the association of the markers with diseases and their clinical phenotypes.

作者简介

N. Babushkina

Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences

编辑信件的主要联系方式.
Email: nad.babushkina@medgenetics.ru
Russia, 634050, Tomsk

A. Kucher

Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences

Email: nad.babushkina@medgenetics.ru
Russia, 634050, Tomsk

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