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Article

USB1 is a miRNA deadenylase that regulates hematopoietic development.

Science (New York, N.Y.) - 3 Mar 2023

Jeong Ho-Chang, Shukla Siddharth, Fok Wilson Chun, Huynh Thao Ngoc, Batista Luis Francisco Zirnberger, Parker Roy

Abstract excerpt

Mutations in the 3' to 5' RNA exonuclease USB1 cause hematopoietic failure in poikiloderma with neutropenia (PN). Although USB1 is known to regulate U6 small nuclear RNA maturation, the molecular mechanism underlying PN remains undetermined, as pre-mRNA splicing is unaffected in patients. We generated human embryonic stem cells harboring the PN-associated mutation c.531_delA in USB1 and show that this mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36862787
DOI: 10.1126/science.abj8379
PMCID: PMC10827040

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