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Article

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification.

Genes & development - 1 Sept 2012

Mroczek Seweryn, Krwawicz Joanna, Kutner Jan, Lazniewski Michal, Kuciński Iwo, Ginalski Krzysztof, Dziembowski Andrzej

Abstract excerpt

C16orf57 encodes a human protein of unknown function, and mutations in the gene occur in poikiloderma with neutropenia (PN), which is a rare, autosomal recessive disease. Interestingly, mutations in C16orf57 were also observed among patients diagnosed with Rothmund-Thomson syndrome (RTS) and dyskeratosis congenita (DC), which are caused by mutations in genes involved in DNA repair and telomere maintenance. A...

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Identifiers

PMID: 22899009
DOI: 10.1101/gad.193169.112
PMCID: PMC3435495

Genes

USB1

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Related research

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C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification.PMID 22899009Read ↗

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

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.Semantic proximity Read ↗

USB1 is a miRNA deadenylase that regulates hematopoietic development.Semantic proximity Read ↗

A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor.Semantic proximity Read ↗

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.Semantic proximity Read ↗

Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms.Semantic proximity Read ↗

Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.Semantic proximity Read ↗

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.Semantic proximity Read ↗

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.Semantic proximity Read ↗

[Mutations of C16orf57 gene have been identified in the poikiloderma-neutropenia syndrome and in a specific subset of congenital dyskeratosis with normal-length telomeres].Semantic proximity Read ↗

Usb1 controls U6 snRNP assembly through evolutionarily divergent cyclic phosphodiesterase activities.Semantic proximity Read ↗

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