ArticleGenes & development2012
C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification.
Article in Genes & development, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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49 citing papers in PubMed, 80 citations in OpenAlex.
- USB1 deficiency disrupts neutrophil maturation via RNA dysregulation independent of global pre-mRNA splicing.Animal models and experimental medicine · 2026Article
- TUT1-catalyzed U6 snRNA 3'-end maturation is essential for RNA splicing and stem cell survival.EMBO reports · 2026Article
- Article
- A guide to the biogenesis and functions of endogenous small non-coding RNAs in animals.Nature reviews. Molecular cell biology · 2025Review
- Cryo-EM structure of human TUT1:U6 snRNA complex.Nucleic acids research · 2025Article
- Sm complex assembly and 5' cap trimethylation promote selective processing of snRNAs by the 3' exonuclease TOE1.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Discovery of the major 15-30 nt mammalian small RNAs, their biogenesis and function.Nature communications · 2023Article
- Mechanism of U6 snRNA oligouridylation by human TUT1.Nature communications · 2023Article
- USB1 is a miRNA deadenylase that regulates hematopoietic development.Science (New York, N.Y.) · 2023Article
- Pre-mRNA splicing-associated diseases and therapies.RNA biology · 2023Review
- Yeast U6 snRNA made by RNA polymerase II is less stable but functional.RNA (New York, N.Y.) · 2022Article
- Review
- Autosomal recessive diseases among the Athabaskans of the southwestern United States: anthropological, medical, and scientific aspects.Journal of applied genetics · 2021Review
- Functions and mechanisms of RNA tailing by metazoan terminal nucleotidyltransferases.Wiley interdisciplinary reviews. RNA · 2021Review
- Comprehensive Analysis of the Functions and Prognostic Value of RNA-Binding Proteins in Thyroid Cancer.Frontiers in oncology · 2021Article
- Physiologic RNA targets and refined sequence specificity of coronavirus EndoU.RNA (New York, N.Y.) · 2020Article
- Arabidopsis exoribonuclease USB1 interacts with the PPR-domain protein SOAR1 to negatively regulate abscisic acid signaling.Journal of experimental botany · 2020Article
- Structural basis for the evolution of cyclic phosphodiesterase activity in the U6 snRNA exoribonuclease Usb1.Nucleic acids research · 2020Article
- RNA ligation precedes the retrotransposition of U6/LINE-1 chimeric RNA.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- One Disease, Many Genes: Implications for the Treatment of Osteopetroses.Frontiers in endocrinology · 2019Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 genetic screen in Saccharomyces cerevisiae revealed that the yeast ortholog of C16orf57, USB1 (YLR132C), is essential for U6 small nuclear RNA (snRNA) biogenesis and cell viability. Usb1 depletion destabilized U6 snRNA, leading to splicing defects and cell growth defects, which was suppressed by the presence of multiple copies of the U6 snRNA gene SNR6. Moreover, Usb1 is essential for the generation of a unique feature of U6 snRNA; namely, the 3'-terminal phosphate. RNAi experiments in human cells followed by biochemical and functional analyses confirmed that, similar to yeast, C16orf57 encodes a protein involved in the 2',3'-cyclic phosphate formation at the 3' end of U6 snRNA. Advanced bioinformatics predicted that C16orf57 encodes a phosphodiesterase whose putative catalytic activity is essential for its function in vivo. Our results predict an unexpected molecular basis for PN, DC, and RTS and provide insight into U6 snRNA 3' end formation.
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