Cockayne syndrome group A and B proteins function in rRNA transcription through nucleolin regulation

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Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA.

Cockayne syndrome is a neurodegenerative accelerated aging disorder caused by mutations in the CSA or CSB genes. Although the pathogenesis of Cockayne syndrome has remained elusive, recent work implicates mitochondrial dysfunction in the disease progression. Here, we present evidence that loss of CSA or CSB in a neuroblastoma cell line converges on mitochondrial dysfunction caused by defects in...

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We investigated the question if CSB (Cockayne Syndrome complementation B) protein actively regulates gene transcription and how mutations in CSB gene affect that regulatory role. Here we describe how we processed and interpreted ChIP-seq data (deposited in Gene Expression Omnibus with accession number GSE50171) obtained during an investigation of that question, and how this analysis assisted in...

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Cockayne syndrome (CS) is characterized by increased photosensitivity, growth retardation, and neurological and skeletal abnormalities. The recovery of RNA synthesis is abnormally delayed in CS cells after exposure to UV radiation. Gene-specific repair studies have shown a defect in the transcription-coupled repair (TCR) of active genes in CS cells from genetic complementation groups A and B (C...

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Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation

Cockayne syndrome (CS) is a severe neurodevelopmental disorder characterized by growth abnormalities, premature aging, and photosensitivity. Mutation of Cockayne syndrome B (CSB) affects neuronal gene expression and differentiation, so we attempted to bypass its function by expressing downstream target genes. Intriguingly, ectopic expression of Synaptotagmin 9 (SYT9), a key component of the mac...

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The hereditary disease Cockayne syndrome (CS) is a complex clinical syndrome characterized by arrested post-natal growth as well as neurological and other defects. The CSA and CSB genes are implicated in this disease. The clinical features of CS can also accompany the excision repair-defective hereditary disorder xeroderma pigmentosum (XP) from genetic complementation groups B, D or G. The XPB ...

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ژورنال

عنوان ژورنال: Nucleic Acids Research

سال: 2020

ISSN: 0305-1048,1362-4962

DOI: 10.1093/nar/gkz1242