Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.

doi:10.1016/j.ajhg.2017.07.002

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Article

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.

American journal of human genetics - 3 Aug 2017

Edvardson Simon, Nicolae Claudia M, Agrawal Pankaj B, Mignot Cyril, Payne Katelyn, Prasad Asuri Narayan, Prasad Chitra, Sadler Laurie, Nava Caroline, Mullen Thomas E, Begtrup Amber, Baskin Berivan, Powis Zöe, Shaag Avraham, Keren Boris, Moldovan George-Lucian, Elpeleg Orly

Abstract excerpt

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...

Topics

Adolescent
Adult
Atrophy
Brain
Brain Diseases
Cell Nucleolus
Child
Chromatin
DNA-Binding Proteins
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Neurodegenerative Diseases

Pol1 Transcription Initiation Complex Proteins

Polymorphism, Single Nucleotide

Promoter Regions, Genetic

RNA, Ribosomal, 18S

Young Adult

Source

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Identifiers

PMID: 28777933
DOI: 10.1016/j.ajhg.2017.07.002
PMCID: PMC5544390

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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