Are miR-548 family members potential genetic drivers of CAKUT
Аутори
Mitrović, KristinaKolić, Ivana
Životić, Ivan
Filipović Tričković, Jelena G.
Đorđević, Ana
Živković, Maja
Stanković, Aleksandra
Jovanović, Ivan G.
Конференцијски прилог (Објављена верзија)
Метаподаци
Приказ свих података о документуАпстракт
Introduction: miR-548 family members, located on all human chromosomes except chr19 and chrY, regulate podocyte differentiation in vitro, important for kidney development. Rare copy number variants (rCNVs) are the common genetic cause of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) and could harbour miRNAs. The aim of this study was to investigate to which extent rCNVs associated with CAKUT harbour miR-548 members.
Materials and Methods: Extensive literature review was conducted to collect data of pathogenic and likely pathogenic rCNVs in CAKUT patients. UCSC genome browser tool was employed for mapping of miR-548 members onto collected rCNV regions and gnomAD SV controls database. Bioinformatic analysis was conducted using miRPathDB2 tool.
Results: We generated CAKUT database of pathogenic CNVs in 79 chromosome regions from 191 patient and likely pathogenic CNVs in 74 regions from 87 patients. Pathogenic rCNVs of seventeen patients, located on 7 chromosomes, containe...d at least one miR-548 member. Likely pathogenic rCNVs of 4 patients, located on 3 chromosomes, contained one of miR-548 members. Bioinformatic analysis implied the role of mapped miRNAs in the regulation of processes associated with CAKUT. In controls, only hsa-mir-548i-3 (out of 73 precursors) was mapped on polymorphic CNVs (af>1%) and wasn’t identified in patients.
Conclusions: miR-548 members located in rCNVs should be investigated in future studies as potential genetic drivers of CAKUT development, beyond protein coding genes.
Извор:
European Journal of Human Genetics, 2022, 30, Suppl. 1, 331-Финансирање / пројекти:
- MiFaDriCa - Identification of Cnv-Mirnas As Genetic Drivers and Risk Factors for Congenital Anomalies of the Kidney and Urinary Tract (Cakut) (RS-ScienceFundRS-Promis-6066923)
- Министарство науке, технолошког развоја и иновација Републике Србије, институционално финансирање - 200017 (Универзитет у Београду, Институт за нуклеарне науке Винча, Београд-Винча) (RS-MESTD-inst-2020-200017)
Напомена:
- 54th European Society of Human Genetics (ESHG) Conference; August 28-31, 2021; Virtual Conference
- Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: e-Posters
Колекције
Институција/група
VinčaTY - CONF AU - Mitrović, Kristina AU - Kolić, Ivana AU - Životić, Ivan AU - Filipović Tričković, Jelena G. AU - Đorđević, Ana AU - Živković, Maja AU - Stanković, Aleksandra AU - Jovanović, Ivan G. PY - 2022 UR - https://vinar.vin.bg.ac.rs/handle/123456789/10830 AB - Introduction: miR-548 family members, located on all human chromosomes except chr19 and chrY, regulate podocyte differentiation in vitro, important for kidney development. Rare copy number variants (rCNVs) are the common genetic cause of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) and could harbour miRNAs. The aim of this study was to investigate to which extent rCNVs associated with CAKUT harbour miR-548 members. Materials and Methods: Extensive literature review was conducted to collect data of pathogenic and likely pathogenic rCNVs in CAKUT patients. UCSC genome browser tool was employed for mapping of miR-548 members onto collected rCNV regions and gnomAD SV controls database. Bioinformatic analysis was conducted using miRPathDB2 tool. Results: We generated CAKUT database of pathogenic CNVs in 79 chromosome regions from 191 patient and likely pathogenic CNVs in 74 regions from 87 patients. Pathogenic rCNVs of seventeen patients, located on 7 chromosomes, contained at least one miR-548 member. Likely pathogenic rCNVs of 4 patients, located on 3 chromosomes, contained one of miR-548 members. Bioinformatic analysis implied the role of mapped miRNAs in the regulation of processes associated with CAKUT. In controls, only hsa-mir-548i-3 (out of 73 precursors) was mapped on polymorphic CNVs (af>1%) and wasn’t identified in patients. Conclusions: miR-548 members located in rCNVs should be investigated in future studies as potential genetic drivers of CAKUT development, beyond protein coding genes. C3 - European Journal of Human Genetics T1 - Are miR-548 family members potential genetic drivers of CAKUT VL - 30 IS - Suppl. 1 SP - 331 UR - https://hdl.handle.net/21.15107/rcub_vinar_10830 ER -
@conference{ author = "Mitrović, Kristina and Kolić, Ivana and Životić, Ivan and Filipović Tričković, Jelena G. and Đorđević, Ana and Živković, Maja and Stanković, Aleksandra and Jovanović, Ivan G.", year = "2022", abstract = "Introduction: miR-548 family members, located on all human chromosomes except chr19 and chrY, regulate podocyte differentiation in vitro, important for kidney development. Rare copy number variants (rCNVs) are the common genetic cause of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) and could harbour miRNAs. The aim of this study was to investigate to which extent rCNVs associated with CAKUT harbour miR-548 members. Materials and Methods: Extensive literature review was conducted to collect data of pathogenic and likely pathogenic rCNVs in CAKUT patients. UCSC genome browser tool was employed for mapping of miR-548 members onto collected rCNV regions and gnomAD SV controls database. Bioinformatic analysis was conducted using miRPathDB2 tool. Results: We generated CAKUT database of pathogenic CNVs in 79 chromosome regions from 191 patient and likely pathogenic CNVs in 74 regions from 87 patients. Pathogenic rCNVs of seventeen patients, located on 7 chromosomes, contained at least one miR-548 member. Likely pathogenic rCNVs of 4 patients, located on 3 chromosomes, contained one of miR-548 members. Bioinformatic analysis implied the role of mapped miRNAs in the regulation of processes associated with CAKUT. In controls, only hsa-mir-548i-3 (out of 73 precursors) was mapped on polymorphic CNVs (af>1%) and wasn’t identified in patients. Conclusions: miR-548 members located in rCNVs should be investigated in future studies as potential genetic drivers of CAKUT development, beyond protein coding genes.", journal = "European Journal of Human Genetics", title = "Are miR-548 family members potential genetic drivers of CAKUT", volume = "30", number = "Suppl. 1", pages = "331", url = "https://hdl.handle.net/21.15107/rcub_vinar_10830" }
Mitrović, K., Kolić, I., Životić, I., Filipović Tričković, J. G., Đorđević, A., Živković, M., Stanković, A.,& Jovanović, I. G.. (2022). Are miR-548 family members potential genetic drivers of CAKUT. in European Journal of Human Genetics, 30(Suppl. 1), 331. https://hdl.handle.net/21.15107/rcub_vinar_10830
Mitrović K, Kolić I, Životić I, Filipović Tričković JG, Đorđević A, Živković M, Stanković A, Jovanović IG. Are miR-548 family members potential genetic drivers of CAKUT. in European Journal of Human Genetics. 2022;30(Suppl. 1):331. https://hdl.handle.net/21.15107/rcub_vinar_10830 .
Mitrović, Kristina, Kolić, Ivana, Životić, Ivan, Filipović Tričković, Jelena G., Đorđević, Ana, Živković, Maja, Stanković, Aleksandra, Jovanović, Ivan G., "Are miR-548 family members potential genetic drivers of CAKUT" in European Journal of Human Genetics, 30, no. Suppl. 1 (2022):331, https://hdl.handle.net/21.15107/rcub_vinar_10830 .