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. 2023 Jul 24;13:1137346. doi: 10.3389/fonc.2023.1137346

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Copyright © 2023 Zheng, Liu, Pan and Cui

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Mutations in miRNA-processing genes lead to aberrant miRNA biogenesis. Recurrent mutations in the metal-binding (Mg2+) residue of the RNase IIIb domain of DROSHA (E1147K) or the doublestranded RNA-binding domain of DGRC8 (E518K) disrupted the cleavage of pri-miRNAs into pre-miRNAs. Mutations in XPO5 (encoding exportin 5) prevent pre-miRNA export, resulting in premiRNA accumulation in the nucleus. Frameshift mutations in TARBP2 (encoding TRBP) and those affecting the RNase IIIb domain of DICER1 can disrupt the processing of pre-miRNAs into mature miRNAs. Created by Figdraw.