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Updated: Mar 13, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Association between a functional variant in RAD51 gene's 3' untranslated region and its mRNA expression in
Fengxia Chen1, Haozhong Zhang1, Feifei Pu2
1Department of Medical Oncology, General Hospital of The Yangtze River Shipping, Wuhan, 430022 Hubei People's Republic of China.
Object:
Variants of microRNA (miRNA)-binding sites in RAD51 gene's 3' untranslated region (3'UTR) are significantly associated with cancer risk, but the roles of these genetic variants in post-transcriptional regulation have not been elucidated.
Methods:
The SNPs of RAD51 were identified both in the regulatory region and in the coding region by means of the online database. The bioinformatic tool SNP Function Prediction was used to predict the potential functional relevance of the miRNA-binding sites. We used additional data on RAD51 genotypes and mRNA levels available online for the genotype-phenotype association analysis.
Results:
We found that rs12593359, rs7180135, rs11855560, and rs45507396 in the RAD51 3'UTR affect possible miRNA-binding sites according to bioinformatic analysis. Only rs12593359 was significantly associated with RAD51 mRNA expression in lymphoblastoid cell lines (P = 0.022).
Conclusion:
This study demonstrated that rs12593359 may be a putative variant mediating the post-transcriptional regulation of the RAD51 gene. Deeper understanding of how 3'UTR variants influence RAD51 activity will pave the way to targeting of the RAD51 pathway as a cancer treatment.
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