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Updated: Dec 17, 2025
In Vivo Detection and Analysis of Rb Protein SUMOylation in Human Cells
Published on: November 2, 2017
HRM screening of the UBC9 gene encoding the SUMO-E2-conjugating enzyme - case-control study in breast cancer
P Bialik1, D Wysokinski1, M Slomka2
1University of Lodz, Faculty of Biology and Environmental Protection, Department of Molecular Genetics, 90-236 Lodz, Poland.
Aim:
UBC9 (E2) small ubiquitin-like modifier conjugating enzyme plays a key role in the post-translational modification of proteins named sumoylation. Defects in small ubiquitin-like modifier modification may contribute to breast carcinogenesis. In the present work, we examined UBC9 genetic variation.
Materials And Methods:
UBC9 genetic variation was analyzed by using the high resolution melting (HRM) method. HRM study was conducted on 173-182 healthy women and 188-190 women with breast cancer.
Results:
During HRM screening, we analysed three known single-nucleotide polymorphisms in introns: rs4984806, rs909916 and rs909917, and one known single nucleotide polymorphism rs8063 in exon 7, in a non-coding region. The genotype frequencies for all polymorphisms were in accordance with Hardy - Weinberg equilibrium among the control subjects and breast cancer patients. The linkage disequilibrium analysis displayed that there was one polymorphism block, which consisted of three single nucleotide polymorphisms: rs909916, rs909917 and rs4984806. We identified two common haplotypes CCG and TTC, but we did not find significant differences in the distribution of these haplotypes between cases and controls.
Conclusion:
Our study showed no differences in the occurrence of indicated polymorphisms in the UBC9 gene in a group of healthy women compared to women with breast cancer. These results suggest that the polymorphisms of the UBC9 gene - rs4984806, rs909916, rs909917 and rs8063 can be not associated with breast cancer risk.
