Frequency of inversions in the T-lymphocyte chromosomes of exposed residents of the Southern Urals

Krivoshchapova YaV, Vozilova AV
About authors

Urals Research Center for Radiation Medicine of the Federal Medical Biological Agency, Chelyabinsk, Russia

Correspondence should be addressed: Yana V. Krivoshchapova
Vorovsky, 68А, Chelyabinsk, 454141, Russia; ur.liam@oh_anay

About paper

Funding: the study was supported in part by the Russian Foundation for Basic Research (RFBR) grant together with the Government of the Chelyabinsk Region (Contract № 20-44-740007\20 of 28.01.2021), as well as by the Federal Target Program of FMBA of Russia “Modernization of Hightech Methods Aimed at Identifying Medical Consequences of Radiation Exposure in Personnel of the Mayak PA and the Population of the Ural Region” (code “Medical Consequences-21”).

Acknowledgments: the authors would like to express their gratitude to Savkova N.F., senior laboratory assistant, for technical and laboratory support.

Author contribution: Vozilova AV — study concept, research priority setting, literature review, manuscript writing; Krivoshchapova YaV — developing criteria for analysis, staining and slide assessment, statistics, manuscript writing.

Compliance with the ethical standards: the study was approved by the Ethics Committee of the Urals Research Center for Radiation Medicine (protocol No. 7 dated 20 October 2023); individuals, who were through cytogenetic testing, submitted the informed consent to blood sampling and further assessment.

Received: 2023-08-08 Accepted: 2023-10-15 Published online: 2023-11-21
  1. Akleev AV, editor. Consequences of radioactive contamination of the river Techa. Chelyabinsk: The Book, 2016; p. 400. Russian.
  2. Venkatesan S, Natarajan AT, Hande MP. Chromosomal instabilitymechanisms and consequences Mutat. Res Gen Toxicol Environ Mutagen. 2015; 793: 176–84.
  3. Bailey SM, Bedford JS. Studies on chromosome aberration induction: What can they tell us about DNA repair? DNA repair. 2006; 5: 1171– 81.
  4. Cytogenetic analysis for radiation dose assessment: a manual. International Atomic Energy Agency Technical Reports Series. 2001; 405: 30–45.
  5. Vozilova AV. Assessment of the effect of chronic exposure on premature aging of human T-lymphocytes based on unstable chromosome aberrations. Extreme medicine. 2023; 2 (25): 50–5. Russian.
  6. Vozilova AV, Shagina NB, Degteva MO, Akleyev AV. Chronic radioisotope effects on residents of the Techa river (Russia) region: cytogenetic analysis more than 50 years after onset of exposure Mutation Research. 2013; 756 (1–2); 115–8.
  7. Bonassi S, Norppa H, Ceppi M, Strömberg U, Vermeulen R, Znaor A, et al. Chromosomal aberration frequency in lymphocytes predicts the risk of cancer: results from a pooled cohort study of 22 358 subjects in 11 countries. Carcinogenesis. 2008; 29 (6): 1178–83.
  8. Eidelman YA, Salnikov IV, Slanina SV, Andreev SG. Chromosome folding promotes intrachromosomal aberrations under radiation- and nuclease-induced DNA breakage. Int. J. Mol. Sci. 2021; 22 (22): 12186. DOI: 10.3390/ijms222212186.
  9. Bunting SF, Nussenzweig A. End-joining, translocations and cancer. Nat Rev Cancer. 2013; 13 (7): 443–54.
  10. Iourov IY, Vorsanova SG, et al. The Cytogenomic “Theory of Evrything” chromohelikosis may underlie chromosomal instability and mosaicism in disease and aging. Int. J. Sci. 2020; 21: 8328.
  11. Puig M, Casillas S, Villatoro S, et al. Human inversions and their functional consequences. Briefings in Functional Genomics. 2015; 14 (5): 369–79.
  12. Hoffmann AA, Rieseberg LH. Revisiting the impact of inversions in evolution: from population genetic markers to drivers of adaptive shifts and speciation. Annu Rev Ecol Evol Syst. 2008; 39: 21–42.
  13. Ray FA, Zimmerman E, et al. Directional genomic hybridization for chromosomal inversion discovery and detection. Chromosome Res. 2013; 21: 165–74.
  14. Livingston GK, Ryan T, Smith TL, et al. Detection of simple, complex, and clonal chromosome translocations induced by internal radioiodine exposure: a cytogenetic follow-up case study after 25 years. Cytogen Genome Res. 2019; 159: 169–81.
  15. Luxton J, McKenna M, Lewis A, et al. Telomere length dynamics and DNA damage responses associated with long-duration spaceflight. Cell Rep. 2020; 33 (10): 108457. DOI: 10.1016/j. celrep.2020.108457.
  16. Vozilova AV, Krivoshchapova YaV. Investigation of the frequency of inversions and complex translocations in T-lymphocytes in irradiated residents of the Southern Urals. Radiation Biology. Radioecology. 2022; 62 (4): 408–15. Russian.
  17. Vozilova AV, Shagina NB, Degteva MO, et al. Chronic radioisotope effects on residents of the Techa river (Russia) region: cytogenetic analysis more than 50 years after onset of exposure Mutation Research. 2013; 756 (1–2): 115–8.
  18. Nielsen PE, Egholm M, Berg RH, Buchardt O. Sequence-selective recognition of DNA by strand displacement with a thyminesubstituted polyamide. Sci. 1991; 254 (5037): 1497–500.
  19. Ruiz-Herrera A, Nergadze SG, Santagostino M, Giulotto E. Telomeric repeats far from the ends: Mechanisms of origin and role in evolution. Cytogenetic and Genome Research. 2009; 122 (3–4): 219–28.
  20. Bolzán AD. Interstitial telomeric sequences in vertebrate chromosomes: Origin, function, instability and evolution. Mutation Research. 2017; 773: 51–65.
  21. Nergadze SG, Santagostino MA, Salzano A, Mondello C, Giulotto E. Contribution of telomerase RNA retrotranscription to DNA double-strand break repair during mammalian genome evolution. Genome Biology. 2007; 8 (12): R260.
  22. Marzec P, Armenise C, Pérot G, Roumelioti FM, Basyuk E, Gagos S, et al. Nuclear-receptor-mediated telomere insertion leads to genome instability in ALT cancers. Cell. 2015; 160 (5): 913–27.
  23. Muntoni A, Reddel RR. The first molecular details of ALT in human tumor cells. Human Molecular Genetics. 2005; 14 (2): 191–6.
  24. Gonzalez-Suarez I, Gonzalo S, Crosstalk between chromatin structure, nuclear compartmentalization, and telomere biology. Cytogenetic and Genome Research. 2009; 122 (3–4): 202–10.
  25. Lewin B. Genes. M.: BINOM. Laboratoriya znaniy, 2011; 896 с. Russian.