ArticleAmerican journal of human genetics2017
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
33 citing papers in PubMed, 54 citations in OpenAlex.
- Childhood-onset neurodegeneration and brain atrophy: definingJournal of medical genetics · 2026Article
- The Nucleolus in Human Disease: Ribosome Biogenesis, Nucleolar Surveillance, and Therapeutic Opportunities.Biomolecules · 2026Review
- Mouse variants in Taf1c result in reduced survival to birth.Developmental biology · 2025Article
- Emerging roles for the nucleolus in development and stem cells.Development (Cambridge, England) · 2025Review
- It Takes a Village of Chromatin Remodelers to Regulate rDNA Expression.International journal of molecular sciences · 2025Review
- Polymerase I as a Target for Treating Neurodegenerative Disorders.Biomedicines · 2024Review
- An Overview of UBTF Neuroregression Syndrome.Brain sciences · 2024Review
- Genome-wide association study for stayability at different calvings in Nellore beef cattle.BMC genomics · 2024Article
- Expanding the Clinical Spectrum ofNeurology. Genetics · 2023Article
- Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy.Cells · 2023Article
- Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations.Translational psychiatry · 2023Article
- UBTF tandem duplications define a distinct subtype of adult de novo acute myeloid leukemia.Leukemia · 2023Article
- UBTF tandem duplications are rare but recurrent alterations in adult AML and associated with younger age, myelodysplasia, and inferior outcome.Blood cancer journal · 2023Article
- POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.American journal of human genetics · 2023Article
- Ribosome biogenesis and function in development and disease.Development (Cambridge, England) · 2023Review
- Analysis of rare driving events in pediatric acute myeloid leukemia.Haematologica · 2023Article
- SARS-CoV-2 Covid-19 Infection During Pregnancy and Differential DNA Methylation in Human Cord Blood Cells From Term Neonates.Epigenetics insights · 2023Article
- HMG-boxes, ribosomopathies and neurodegenerative disease.Frontiers in genetics · 2023Review
- A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype.Molecular genetics & genomic medicine · 2022Article
- Behavioral and molecular effects of Ubtf knockout and knockdown in mice.Brain research · 2022Article
Corrections and comments
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Authors and funding
17 authors at 11 institutions in 4 countries.
Funding
Abstract
Ribosomal RNA (rRNA) is transcribed from rDNA by RNA polymerase I (Pol I) to produce the 45S precursor of the 28S, 5.8S, and 18S rRNA components of the ribosome. Two transcription factors have been defined for Pol I in mammals, the selectivity factor SL1, and the upstream binding transcription factor (UBF), which interacts with the upstream control element to facilitate the assembly of the transcription initiation complex including SL1 and Pol I. In seven unrelated affected individuals, all suffering from developmental regression starting at 2.5-7 years, we identified a heterozygous variant, c.628G>A in UBTF, encoding p.Glu210Lys in UBF, which occurred de novo in all cases. While the levels of UBF, Ser388 phosphorylated UBF, and other Pol I-related components (POLR1E, TAF1A, and TAF1C) remained unchanged in cells of an affected individual, the variant conferred gain of function to UBF, manifesting by markedly increased UBF binding to the rDNA promoter and to the 5'- external transcribed spacer. This was associated with significantly increased 18S expression, and enlarged nucleoli which were reduced in number per cell. The data link neurodegeneration in childhood with altered rDNA chromatin status and rRNA metabolism.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.