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MOLECULAR GENETIC ANALYSIS OF DOUBLE-STRAND DNA BREAK REPAIR GENES POLYMORPHISM IN INDIGENOUS AND MIGRANT POPULATIONS

Abstract

АТМ Asp1853Asn, Lig4 Ala3Val, and NBS Glu185Gln genes polymorphism in two ethnic groups of Kemerovo region (the Shors and the Russians) has been studied. The frequency of minor АТМ1853Asn allele in the Shors group corresponds to the data obtained for Mongoloids (in various world populations) and is significantly lower than the inci dence of this allele in the Russians in Kemerovo region. The frequencies of Lig4¸ NBS1 alleles and genotypes in the. Russians and the Shors do not differ, as stated in the previous research. These data indicates a big share of the Mongolo id component in the genome of the indigenous people of Siberia – the Shors.

About the Authors

V. I. Minina
Kemerovo State University; Institute for Human Ecology of the Siberian branch of the RAS
Russian Federation
Varvara I. Minina – Candidate of Biology, Assistant Professor at the Department of Genetics Kemerovo State University; Head of Cytogenetics Laboratory at the Institute for Human Ecology of the Siberian branch of the RAS


V. G. Druzhinin
Kemerovo State University; Institute for Human Ecology of the Siberian branch of the RAS
Russian Federation
Vladimir G. Druzhinin – Vice-Rector for Science of Kemerovo State University, Doctor of Biology; leading re searcher at the Institute for Human Ecology of the Siberian branch of the RAS


A. A. Timofeeva
Kemerovo State University; Institute for Human Ecology of the Siberian branch of the RAS
Russian Federation
Anna A. Timofeeva – post-graduate student at the Department of Genetics, Kemerovo State University; engineer at the Institute for Human Ecology of the Siberian branch of the RAS


A. V. Ryzhkova
Kemerovo State University
Russian Federation
Anastasiya V. Ryzhkova – student at


A. V. Larionov
Kemerovo State University
Russian Federation
Alexey V. Larionov – Lecturer at the Department of Genetics


References

1. Молекулярно-генетический анализ полиморфизма генов hOGG1и ADPRT у коренного и пришлого на селения Таштагольского Района Кемеровской области / В. И. Минина, В. Г. Дружинин, А. Н. Глушков [и др.] // Вестник КемГУ. – 2011. – № 3(47). – С. 6 – 9.

2. Особенности преждевременного старения при атаксии-телеангиэктазии / Е. А. Полуботко, Н. В. Смирнова, Н. М. Плескач [и др.] // Цитология. – 2009. – Т. 51. – № 8. – С. 712 – 718.

3. Polymorphisms of DNA damage response genes in radiation-related and sporadic papillary thyroid carcinoma / N. Akulevich, V. A. Saenko, T. Rogounovitch [et al.] // Endocrine-Related Cancer. – 2009. – V. 16. – P. 491 – 503.

4. Bakkenist, C. J. DNA damage activates ATM through intermolecular autophosphorylation and dimer dissocia tion / C. J. Bakkenist and M. B. Kastan // Nature. – 2003. – V. 421. – Р. 499 – 506.

5. Becker-Catania, S. G. Ataxia-telangiectasia / S. G. Becker-Catania, R. A. Gatti // Adv Exp Med Biol. –2001. – V. 495. – P. 191 – 199.

6. Berkovich, E. Roles of ATM and NBS1 in chromatin structure modulation and DNA double-strand break re pair / E. Berkovich, R. J. Monnat, M. B. Kastan // Nat Cell Biol. – 2007. – V. 9(6). – P. 683 – 690.

7. Chistiakov, D. A. Genetic variations in DNA repair genes, radiosensitivity to cancer and susceptibility to acute tissue reactions in radiotherapy-treated cancer patients / D. A. Chistiakov, N. V. Voronova, P. A. Chistiakov // Acta Oncologica. – 2008. – V. 47. – P. 809 – 824.

8. Cho, S. Associations between polymorphisms in DNA repair genes and TP53 mutations in non-small cell lung cancer / S. Cho, M. J. Kim, Y. Y. Cho // Lung Cancer. – 2011. – V. 73. – P. 25 – 31.

9. Crawford, T. O. Ataxia telangiectasia / T. O. Crawford // Semin Pediatr Neurol. – 1998. – № 5(4). – P. 287 – 294.

10. Breast cancer risk associated with genotypic polymorphism of the nonhomolo-gous end-joining genes: a multi genic study on cancer susceptibility / YP. Fu, JC Yu, TC. Cheng [et al.] / Cancer Res. – 2003. – V. 63(10). – P. 2440 – 2446.

11. Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymor phisms / PM. Girard, B. Kysela, CJ. Harer [et al.] // Hum Mol Genet. – 2004. – V. 13. – P. 2369 – 2376.

12. Association of common ATM variants with familial breast cancer in a South American population / P. González-Hormazábal, T. Bravo, R. Blanco [et al.] // BMC Cancer. – 2008. – 8:117 doi:10.1186/1471-2407-8-117.

13. Association of common ATM polymorphism with bilateral breast cancer / K. Heikkinen, K. Rapakko, S/ M. Karppinen [et al.] // International Journal of Cancer. – 2005. – V. 116. – P. 69 – 72.

14. NBS1 and its functional role in the DNA damage response / J. Kobayashi, A. Antoccia, H. Tauchi [et al.] // DNA Repair. – 2004. – Vol. 3. – P. 855 – 861.

15. Lan, Q. Smoky coal exposure, NBS1 polymorphisms, p53 pro-tein accumulation, and lung cancer risk in Xuan Wei, China / Q. Lan, M. Shen, SI. Berndt // Lung Cancer. – 2005. – 49(3):317-23.

16. DNA repair gene polymorphisms and risk of pancreatic cancer / D. Li, H. Suzuki, L.Bingrong [et al.] // Clin. Cancer Res. – 2009. – V. 15(2). – P. 740 – 746.

17. ATM polymorphisms and risk of lung cancer among never smokers / Y. L. Lo, C. F. Hsiao, Y. S. Jou [et al.] // Lung cancer. – 2010. – V. 69. – Iss. 2. – P. 148 – 154.

18. Polymorphisms and haplotypes of the NBS1 gene are associated with risk of sporadic breast cancer in non– Hispanic white women ≤ 55 years / J. Lu, Q. Wei, M. L. Bondy [et al.] // Carcinogenesis. – 2006. – Vol. 27. – No. 11. – P. 2209 – 2216.

19. A polymorphism in the ATM gene modulates the penetrance of hereditary non-polyposis colorectal cancer / P. Maillet, PO. Chappuis, G. Vaudan [et al.] // Int J Cancer. – 2000. – V. 88. – P. 928 – 931.

20. DNA repair polymorphisms and cancer risk in non-smokers in a cohort study / G. Matullo, A. M. Dunning, S. Guarrera [et al.] // Carcinogenesis. – 2006. – V. 27. – № 5. – P. 997 – 1007.

21. Polymorphisms in DNA Repair Genes, Medical Exposure to Ionizing Radiation, and Breast Cancer Risk / R. C. Millikan, J. S. Player, A. R. deCotret [et al.] // Cancer Epidemiol. Biomarkers. – 2005. – Vol. 14(10). – P. 2326 – 2334.

22. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles / A. Renwick, D. Thompson, S. Seal [et al.] // Nat. Genet. – 2006. – V. 38. – P. 873 – 875.

23. Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour charac terized by aberrant class switch recombination / PL. Roddam, S. Rollinson, M. O'Driscoll [et al.] / J. Med Genet. – 2002. – V. 39(12). – P. 900 – 905.

24. Rodriguez, S. Hardy-Weinberg Equilibrium Testing of Biological Ascertainment for Mendelian Randomiza tion Studies / S. Rodriguez, T. R. Gaunt, I. N. M. Day // American Journal of Epidemiology. – 2009. – DOI 10.1093/aje/kwn359.

25. Polymorphisms in DNA repair and metabolic genes in bladder cancer and Pro187Ser, no significant differenc es for genotype / S. Sanyal, F. Festa, S. Shigeru [et al.] // Carcinogenesis. – 2004. – Vol. 25. – № 5. – P. 729 – 734.

26. A single ataxia telangiectasia gene with a product similar to PI-3 kinase / K. Savitsky, A. Bar-Shira, S. Gilad [et al.] / Science. – 1995. – V. 268(5218). – P. 1749 – 1753.

27. Thorstenson, YR. Contributions of ATM mutations to familial breast and ovarian cancer / YR. Thorstenson, A. Roxas, R. Kroiss // Cancer Research. – 2003. – V. 63. – P. 3325 – 3333.

28. Lung cancer susceptibility and prognosis associated with polymorphisms in the nonhomologous end-joining pathway genes / R-C.Tseng, F.-J. Hsieh, C.-M. Shih [et al.] // Cancer. – 2009. – P. 2939 – 2948.

29. Wood, R. D. Human DNA repair genes / R. D. Wood, M. Mitchell, T. Lindahl // Mutat. Res. – 2005. – V. 577. – P. 275 – 283.

30. ATM phosphorylation of Nijmegen breakage syndrome protein is required in a DNA damage response / X. Wu, V. Ranganathan, D. S. Weisman [et al.] // Nature. – 2000. – V. 405. – P. 477 – 482.

31. ATM mutations are rare in familial chronic lymphocytic leukemia / M. Yuille, A. Condie, D. Chantelle [et al.] // American Society of Hematology. – 2001. – V. 100. – P. 603 – 609.

32. Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products / S. Zhao, Y. C. Weng, S. S. Yuan [et al.] // Nature. – 2000. – V. 405(6785). – P. 473 – 477.

33. Polymorphisms of DNA repair genes and risk of non–small cell lung cancer / S. Zienolddiny, D. Campa, H. Lind [et al.] // Carcinogenesis. – 2006. – Vol. 27. – No. 3. – P. 560 – 567.


Review

For citations:


Minina V.I., Druzhinin V.G., Timofeeva A.A., Ryzhkova A.V., Larionov A.V. MOLECULAR GENETIC ANALYSIS OF DOUBLE-STRAND DNA BREAK REPAIR GENES POLYMORPHISM IN INDIGENOUS AND MIGRANT POPULATIONS. SibScript. 2013;(2-1):21-25. (In Russ.)

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