Frequency of heterozygous carriage of mutations in the genes of Notch signal path in patients with clear cell kidney cancer and in the populations of the Volga-Ural region
https://doi.org/10.25789//YMJ.2021.73.01
Abstract
The article presents the results of frequency analysis in the nucleotide sequence of genes of the signal path Notch (DLL4 (rs35748882), HEY2 (rs61737181), JAG1 (rs1801140, rs1801139, rs45575136), NOTCH1 (rs61751542), NOTCH2 (rs3795666), NOTCH4 (rs8192576, rs8192579, rs8192585)) at patients with clear cell kidney cancer and healthy individuals from the population control. It was found that the frequency of detected changes in patients was on average higher than the general population values. The results of this study may indicate the contribution of the studied changes in the nucleotide sequence of genes of Notch signaling pathway to the pathogenesis of clear cell kidney cancer, as well as the possibility of their use while creating a panel of molecular markers for diagnosis and prognosis of the course of the disease.
Supporting agencies: This work was supported by the Ministry of Education and Science of the Russian Federation [No.AAA-A16-116020350032-1] and a grant from St. Petersburg State University [ID No. 60238366 / Project No. 60257092]. We used DNA samples from the "Collection of Human Biological Materials" of the IBG UFSC RAS with the support of the Bioresource Collections Program of the FASO Russia [Agreement No. 007-030164 / 2].
About the Authors
I. R. Gilyazova
Institute of Biochemistry and Genetics, Ufa Federal Research Centre, Russian Academy of Sciences
Russian Federation
Russian Federation
Ufa, Prospect Oktyabrya 71, 450054
E. A. Ivanova
Institute of Biochemistry and Genetics, Ufa Federal Research Centre, Russian Academy of Sciences
Russian Federation
Russian Federation
Ufa, Prospect Oktyabrya 71, 450054
E. K. Khusnutdinova
Institute of Biochemistry and Genetics, Ufa Federal Research Centre, Russian Academy of Sciences
Russian Federation
Russian Federation
Ufa, Prospect Oktyabrya 71, 450054
A. A. Izmailov
Bashkir State Medical University
Russian Federation
Russian Federation
Ufa, Lenina 3, 450008
I. M. Sultanov
Bashkir State Medical University
Russian Federation
Russian Federation
Ufa, Lenina 3, 450008
R. I. Safiullin
Bashkir State Medical University
Russian Federation
Russian Federation
Ufa, Lenina 3, 450008
G. R. Gilyazova
Bashkir State Medical University
Russian Federation
Russian Federation
Ufa, Lenina 3, 450008
V. N. Pavlov
Bashkir State Medical University
Russian Federation
Russian Federation
Ufa, Lenina 3, 450008
References
1. Zhou X, Li H, Guo S, et al. Associations of multiple NOTCH4 exonic variants with systemic sclerosis. J Rheumatol. 2019, V.46, №2, p:184-189. doi:10.3899/jrheum.180094
2. He Y, Wang X. Identification of molecular features correlating with tumor immunity in gastric cancer by multi-omics data analysis. Ann Transl Med. 2020, V.8, №17, p:1050-1050. doi:10.21037/atm-20-922
3. Molina-Cerrillo J, Alonso-Gordoa T, Carrato A, Grande E. Hyperprogression to a dual immune blockade followed by subsequent response with cabozantinib in metastatic poor-risk clear cell renal cell carcinoma with NOTCH mutation. Oncotarget. 2020, V.11, №22, p:2137-2140. doi:10.18632/oncotarget.27598
4. Mohammadian M., Pakzad R., Towhidi F. et al. Incidence and mortality of kidney cancer and its relationship with HDI (Human Development Index) in the world in 2012. Clujul Med. 2017, V.90, №3, p:286-293. doi:10.15386/cjmed-691
5. Sato Y, Yoshizato T, Shiraishi Y, et al. Integrated molecular analysis of clear-cell renal cell carcinoma. Nat Genet. 2013, V.45, №8, p:860-867. doi:10.1038/ng.2699
6. Bhagat TD, Zou Y, Huang S, et al. Notch pathway is activated via genetic and epigenetic alterations and is a therapeutic target in clear cell renal cancer. J Biol Chem. 2017, V.292, №3, p:837-846. doi:10.1074/jbc.M116.745208
7. Wu G, Chen Z, Li J, et al. NOTCH4 is a novel prognostic marker that correlates with colorectal cancer progression and prognosis. J Cancer. 2018, V.9, №13, p:2374-2379. doi:10.7150/jca.26359
8. Zhang J, Kuang Y, Wang Y, Xu Q, Ren Q. Notch-4 silencing inhibits prostate cancer growth and EMT via the NF-κB pathway. Apoptosis. 2017, V.22, №6, p:877-884. doi:10.1007/s10495-017-1368-0
9. Kim DC, Jin H, Lee JS, Son E, Lee GW, Kim HJ. P2Y2R has a significant correlation with Notch-4 in patients with breast cancer. Oncol Lett. 2020, V.20, №1, p:647-654. doi:10.3892/ol.2020.11630
10. Saini N, Sarin A. Nucleolar localization of the Notch4 intracellular domain underpins its regulation of the cellular response to genotoxic stressors. Cell Death Discov. 2020, V.6, №1, p.7. doi:10.1038/s41420-020-0242-y
11. Sjölund J, Johansson M, Manna S, et al. Suppression of renal cell carcinoma growth by inhibition of Notch signaling in vitro and in vivo. J Clin Invest. 2008, V.118, №1, p:217-228. doi:10.1172/JCI32086
12. Vincze T, Posfai J, Roberts RJ. NEBcutter: A program to cleave DNA with restriction enzymes. Nucleic Acids Res. 2003, V.31, №13, p:3688-3691. doi:10.1093/nar/gkg526
13. Yu J, McMahon AP, Valerius MT. Recent genetic studies of mouse kidney development. Curr Opin Genet Dev. 2004, V.14, №5, p:550-557. doi:10.1016/j.gde.2004.07.009
Review
For citations:
Gilyazova I.R., Ivanova E.A., Khusnutdinova E.K., Izmailov A.A., Sultanov I.M., Safiullin R.I., Gilyazova G.R., Pavlov V.N. Frequency of heterozygous carriage of mutations in the genes of Notch signal path in patients with clear cell kidney cancer and in the populations of the Volga-Ural region. Yakut Medical Journal. 2021;(1):5-7. https://doi.org/10.25789//YMJ.2021.73.01
Views:
13
Email this article 