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Article

Human DICER1 hotspot mutation induces both loss and gain of miRNA function.

Nature structural & molecular biology - 1 Dec 2025

Jee David, Lee Seungjae, Yang Dapeng, Rickert Robert, Shang Renfu, Huangfu Danwei, Lai Eric C

Abstract excerpt

The core miRNA biogenesis enzyme DICER1 sustains recurrent mutations in cancer that compromise its RNase IIIb domain, which cleaves 5p arms of precursor microRNA hairpins. However, the lack of knock-in models has limited fuller understanding. Here, we generated DICER1-knockout and DICER1S1344L (homozygous and hemizygous) human embryonic stem cells; the latter is a noncatalytic substitution in RNase IIIa that...

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Identifiers

PMID: 41188597
DOI: 10.1038/s41594-025-01701-7
PMCID: PMC13470825

Genes

DICER1

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