TY  - JOUR
AU  - Rosić, Jovana
AU  - Miladinov, Marko
AU  - Dragičević, Sandra
AU  - Erić, Katarina
AU  - Bogdanović, Aleksandar
AU  - Krivokapić, Zoran
AU  - Nikolić, Aleksandra
PY  - 2023
UR  - https://imagine.imgge.bg.ac.rs/handle/123456789/1769
AB  - Considering the impact of SMAD7 deregulation in colorectal cancer (CRC) progression and the
significance of single nucleotide variant (SNV)-mediated disruptions of microRNA (miRNA)-dependent regulation
for cancer susceptibility, our study aimed to analyze genetic variation in the SMAD7 3′ untranslated region (
3′UTR) in CRC, measure differences in allelic mRNA expression, and evaluate its interference with miRNAmediated
post-transcriptional regulation.
Patients and Methods: This study included 80 patients with different CRC stages and six human colon cancer cell
lines of various histological origins. SMAD7 3′ UTR was analyzed by direct sequencing, followed by the relative
quantification of differential allelic expression of detected variants by allele-specific qRT-PCR. In silico tools were
employed for predictions of regulatory consequences of detected variants.
Results: A total of four different SNVs in one cell line and nine patients were found, among which were a novel
somatic point variant and three already known germline variants (rs16950113, rs1050799536, and
rs1043778717). All evaluated SNVs exhibited variable extents of allelic imbalance in expression. In silico analysis
predicted significant effects of SNVs on miRNA binding efficiency, with each SNV disrupting existing and
creating new target sites for one or more miRNAs.
Conclusion: Imbalance observed in the expression of SNV alleles altering miRNA binding suggests that all
investigated SNVs are potential contributing factors impacting SMAD7 expression regulation in CRC that further
studies should investigate.
PB  - Elsevier
T2  - Gene
T1  - Genetic analysis and allele-specific expression of SMAD7 3′UTR variants in human colorectal cancer reveal a novel somatic variant exhibiting allelic imbalance
SP  - 147217
VL  - 859
DO  - doi.org/10.1016/j.gene.2023.147217
ER  - 

@article{
author = "Rosić, Jovana and Miladinov, Marko and Dragičević, Sandra and Erić, Katarina and Bogdanović, Aleksandar and Krivokapić, Zoran and Nikolić, Aleksandra",
year = "2023",
abstract = "Considering the impact of SMAD7 deregulation in colorectal cancer (CRC) progression and the
significance of single nucleotide variant (SNV)-mediated disruptions of microRNA (miRNA)-dependent regulation
for cancer susceptibility, our study aimed to analyze genetic variation in the SMAD7 3′ untranslated region (
3′UTR) in CRC, measure differences in allelic mRNA expression, and evaluate its interference with miRNAmediated
post-transcriptional regulation.
Patients and Methods: This study included 80 patients with different CRC stages and six human colon cancer cell
lines of various histological origins. SMAD7 3′ UTR was analyzed by direct sequencing, followed by the relative
quantification of differential allelic expression of detected variants by allele-specific qRT-PCR. In silico tools were
employed for predictions of regulatory consequences of detected variants.
Results: A total of four different SNVs in one cell line and nine patients were found, among which were a novel
somatic point variant and three already known germline variants (rs16950113, rs1050799536, and
rs1043778717). All evaluated SNVs exhibited variable extents of allelic imbalance in expression. In silico analysis
predicted significant effects of SNVs on miRNA binding efficiency, with each SNV disrupting existing and
creating new target sites for one or more miRNAs.
Conclusion: Imbalance observed in the expression of SNV alleles altering miRNA binding suggests that all
investigated SNVs are potential contributing factors impacting SMAD7 expression regulation in CRC that further
studies should investigate.",
publisher = "Elsevier",
journal = "Gene",
title = "Genetic analysis and allele-specific expression of SMAD7 3′UTR variants in human colorectal cancer reveal a novel somatic variant exhibiting allelic imbalance",
pages = "147217",
volume = "859",
doi = "doi.org/10.1016/j.gene.2023.147217"
}

Rosić, J., Miladinov, M., Dragičević, S., Erić, K., Bogdanović, A., Krivokapić, Z.,& Nikolić, A.. (2023). Genetic analysis and allele-specific expression of SMAD7 3′UTR variants in human colorectal cancer reveal a novel somatic variant exhibiting allelic imbalance. in Gene
Elsevier., 859, 147217.
https://doi.org/doi.org/10.1016/j.gene.2023.147217

Rosić J, Miladinov M, Dragičević S, Erić K, Bogdanović A, Krivokapić Z, Nikolić A. Genetic analysis and allele-specific expression of SMAD7 3′UTR variants in human colorectal cancer reveal a novel somatic variant exhibiting allelic imbalance. in Gene. 2023;859:147217.
doi:doi.org/10.1016/j.gene.2023.147217 .

Rosić, Jovana, Miladinov, Marko, Dragičević, Sandra, Erić, Katarina, Bogdanović, Aleksandar, Krivokapić, Zoran, Nikolić, Aleksandra, "Genetic analysis and allele-specific expression of SMAD7 3′UTR variants in human colorectal cancer reveal a novel somatic variant exhibiting allelic imbalance" in Gene, 859 (2023):147217,
https://doi.org/doi.org/10.1016/j.gene.2023.147217 . .