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Article

Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.

Blood - 7 Feb 2013

Hilcenko Christine, Simpson Paul J, Finch Andrew J, Bowler Frank R, Churcher Mark J, Jin Li, Packman Len C, Shlien Adam, Campbell Peter, Kirwan Michael, Dokal Inderjeet, Warren Alan J

Abstract excerpt

The recessive disorder poikiloderma with neutropenia (PN) is caused by mutations in the C16orf57 gene that encodes the highly conserved USB1 protein. Here, we present the 1.1 Å resolution crystal structure of human USB1, defining it as a member of the LigT-like superfamily of 2H phosphoesterases. We show that human USB1 is a distributive 3'-5' exoribonuclease that posttranscriptionally removes uridine and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23190533
DOI: 10.1182/blood-2012-10-461491

Genes

USB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.PMID 23190533Read ↗

Structural and mechanistic basis for preferential deadenylation of U6 snRNA by Usb1.Semantic proximity Read ↗

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