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Analysis of HERV-K (HML2) expression in colorectal cancer samples

https://doi.org/10.25557/2073-7998.2025.09.89-92

Abstract

Human endogenous retroviruses (HERVs) are the consequences of retrovirus infections that have integrated into the human genome and have been preserved throughout evolution. The HML2 subgroup is a part of the HERV-K family and maintains activity in certain types of cells. The aim of the study is to assess the expression of HML2 in samples of normal and tumor tissues of patients with colorectal cancer (CRC) using several bioinformatics tools and compare the results.

The study analyzed RNA-Seq data from 48 samples obtained from 12 patients diagnosed with CRC. Three bioinformatics tools were used for the analysis of HML2 expression: GeneTEFlow, TECount, and Telescope. Differential expression was assessed using the DESeq2 package. In our study, we also performed verification of detected transpositions in genomic data using the MELT tool. All loci showing expression based on transcriptomic data were confirmed in the genomic data.

Loci with increased HML2 expression were identified in CRC samples: 1q22, 7p22.1, 8p23.1, 10q24.2, 11q12.1, 11p15.4b, 9q34.11, 19q13.41, and 22q11.23. These loci contain enhancers and genes that regulate cellular metabolism, inflammation, and immune response. The results indicate increased HML2 expression in CRC samples, which may suggest the involvement of these mobile genetic elements in carcinogenesis. To improve the accuracy and depth of the study, it is important to use several bioinformatics tools and analyze overlapping output data, which allows to minimize potential errors and increases the reliability of the results.

About the Authors

V. S. Obrezanenko
Centre for Strategic Planning and Management of Biomedical Health Risks of the Federal medical and biological agency
Russian Federation

10, building 1, Pogodinskaya st., Moscow, 119121


A. S. Makarova
Centre for Strategic Planning and Management of Biomedical Health Risks of the Federal medical and biological agency
Russian Federation

10, building 1, Pogodinskaya st., Moscow, 119121


A. A. Primova
Centre for Strategic Planning and Management of Biomedical Health Risks of the Federal medical and biological agency
Russian Federation

10, building 1, Pogodinskaya st., Moscow, 119121


A. D. Kikot
Centre for Strategic Planning and Management of Biomedical Health Risks of the Federal medical and biological agency
Russian Federation

10, building 1, Pogodinskaya st., Moscow, 119121


D. A. Tarasova
Centre for Strategic Planning and Management of Biomedical Health Risks of the Federal medical and biological agency
Russian Federation

10, building 1, Pogodinskaya st., Moscow, 119121


E. S. Bolashova
Centre for Strategic Planning and Management of Biomedical Health Risks of the Federal medical and biological agency
Russian Federation

10, building 1, Pogodinskaya st., Moscow, 119121


A. A. Ivashechkin
Centre for Strategic Planning and Management of Biomedical Health Risks of the Federal medical and biological agency
Russian Federation

10, building 1, Pogodinskaya st., Moscow, 119121


A. V. Makhotenko
Centre for Strategic Planning and Management of Biomedical Health Risks of the Federal medical and biological agency
Russian Federation

10, building 1, Pogodinskaya st., Moscow, 119121


E. A. Snigir
Centre for Strategic Planning and Management of Biomedical Health Risks of the Federal medical and biological agency
Russian Federation

10, building 1, Pogodinskaya st., Moscow, 119121


K. S. Grammatikati
Centre for Strategic Planning and Management of Biomedical Health Risks of the Federal medical and biological agency
Russian Federation

10, building 1, Pogodinskaya st., Moscow, 119121


S. I. Mitrofanov
Centre for Strategic Planning and Management of Biomedical Health Risks of the Federal medical and biological agency
Russian Federation

10, building 1, Pogodinskaya st., Moscow, 119121


O. A. Kuznetsova
N.N. Blokhin National Medical Research Center of Oncology оf the Ministry of Health of the Russian Federation
Russian Federation

24, Kashirskoe shosse, Moscow, 115522


M. Y. Fedyanin
N.N. Blokhin National Medical Research Center of Oncology оf the Ministry of Health of the Russian Federation
Russian Federation

24, Kashirskoe shosse, Moscow, 115522


A. A. Tryakin
N.N. Blokhin National Medical Research Center of Oncology оf the Ministry of Health of the Russian Federation
Russian Federation

24, Kashirskoe shosse, Moscow, 115522


V. V. Makarov
Centre for Strategic Planning and Management of Biomedical Health Risks of the Federal medical and biological agency
Russian Federation

10, building 1, Pogodinskaya st., Moscow, 119121


V. S. Yudin
Centre for Strategic Planning and Management of Biomedical Health Risks of the Federal medical and biological agency
Russian Federation

10, building 1, Pogodinskaya st., Moscow, 119121


A. A. Keskinov
Centre for Strategic Planning and Management of Biomedical Health Risks of the Federal medical and biological agency
Russian Federation

10, building 1, Pogodinskaya st., Moscow, 119121


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Review

For citations:

Obrezanenko V.S., Makarova A.S., Primova A.A., Kikot A.D., Tarasova D.A., Bolashova E.S., Ivashechkin A.A., Makhotenko A.V., Snigir E.A., Grammatikati K.S., Mitrofanov S.I., Kuznetsova O.A., Fedyanin M.Y., Tryakin A.A., Makarov V.V., Yudin V.S., Keskinov A.A. Analysis of HERV-K (HML2) expression in colorectal cancer samples. Medical Genetics. 2025;24(9):89-92. (In Russ.) https://doi.org/10.25557/2073-7998.2025.09.89-92

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ISSN 2073-7998 (Print)

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