U8 variants on the brain: a small nucleolar RNA and human disease

McFadden, Emily J.; Baserga, Susan J.

doi:10.1080/15476286.2022.2048563

Cited by 8 publications

(8 citation statements)

References 55 publications

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“…LCC is an autosomal recessive disease resulting from SNORD118 gene variations. SNORD118 encodes U8 snoRNA, which is involved in the cleavage event during the maturation of the large ribosomal subunit 5.8S and 28SRNA (Mcfadden & Baserga, 2022 ). Coats plus syndrome is associated with variations in CTC1 , POT1 and STN1 .…”

Section: Discussionmentioning

confidence: 99%

Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations

Chen

et al. 2023

Molec Gen & Gen Med

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Objective Roberts syndrome (RBS), also known as Roberts‐SC phocomelia syndrome, is a rare autosomal recessive developmental disorder caused by mutations in the ESCO2 gene. Cardinal clinical manifestations are pre‐ and postnatal growth retardation and craniofacial and limb malformations. Here, we report RBS in a Chinese adolescent with novel biallelic ESCO2 variations and complex cerebrovascular diseases. Methods Medical history, neurological examinations, neuroimaging, and pathology were collected in the proband and the family. Whole exome sequencing (WES) with copy number variation analysis was performed to screen for genetic variations. Results The clinical features of the proband were craniofacial and limb malformations together with complex cerebrovascular diseases. She suffered ischemic stroke at 6 years old and died of cerebellar hemorrhage secondary to an aneurysm at 13 years old. Besides, neuroimaging showed the triad of leukoencephalopathy, calcifications, and cysts. Brain histopathology revealed angiomatous changes and perivascular cysts suggesting chronic small cerebral vasculopathy. Whole exome sequencing (WES) identified novel biallelic variations in the ESCO2 gene (c.1220A>T, p.H407L and c.1562delC, p.A521fs). Conclusions We describe complex cerebrovascular diseases in Roberts syndrome caused by novel ESCO2 biallelic variations. This case expands not only the cerebral involvement in Roberts syndrome but also the disease spectrum of the neuroimaging triad with leukoencephalopathy, calcifications, and cysts.

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Section: Discussionmentioning

confidence: 99%

Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations

Chen

et al. 2023

Molec Gen & Gen Med

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“…Upon further study, NOC2L was demonstrated to interact with U8 snoRNA but not change its level [ 48 ]. Since U8 snoRNA is known to be responsible for the 28S and 5.8S rRNA processing [ 55 ], NOC2L is considered to participate in 28S and 5.8S rRNA processing but does not affect U8 snoRNA level [ 48 , 52 , 55 ]. Similarly, NOC2L was later demonstrated to be involved in 18S rRNA processing and does not affect U3 snoRNA level [ 48 ].…”

Section: Noc2l Gene Cloning and Identificationmentioning

confidence: 99%

Unmasking the biological function and regulatory mechanism of NOC2L: a novel inhibitor of histone acetyltransferase

Chen

Liu

et al. 2023

J Transl Med

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NOC2 like nucleolar associated transcriptional repressor (NOC2L) was recently identified as a novel inhibitor of histone acetyltransferase (INHAT). NOC2L is found to have two INHAT function domains and regulates histone acetylation in a histone deacetylases (HDAC) independent manner, which is distinct from other INHATs. In this review, we summarize the biological function of NOC2L in histone acetylation regulation, P53-mediated transcription, ribosome RNA processing, certain development events and carcinogenesis. We propose that NOC2L may be explored as a potential biomarker and a therapeutic target in clinical practice.

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“…Although sites of modification have been computationally predicted for SNORD116, no sites of modification have been validated, rather SNORD116 has been shown to function in neuron-specific regulation of mRNA expression and splicing [ 14 , 156 , 268 ]. Another snoRNA-associated genetic neurological disorder, leukoencephalopathy with calcifications and cysts (LCC), also known as Labrune syndrome, is caused by bi-allelic mutations in the gene SNORD118, which encodes the vertebrate-specific box C/D U8 snoRNA that is required for processing of 5.8S and 28S rRNAs [ 269 ].…”

Section: Snorna Maturation Defects In Diseasementioning

confidence: 99%

Maturation of small nucleolar RNAs: from production to function

Webster,

Ghalei

2023

RNA Biology

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Small Nucleolar RNAs (snoRNAs) are an abundant group of non-coding RNAs with well-defined roles in ribosomal RNA processing, folding and chemical modification. Besides their classic roles in ribosome biogenesis, snoRNAs are also implicated in several other cellular activities including regulation of splicing, transcription, RNA editing, cellular trafficking, and miRNA-like functions. Mature snoRNAs must undergo a series of processing steps tightly regulated by transiently associating factors and coordinated with other cellular processes including transcription and splicing. In addition to their mature forms, snoRNAs can contribute to gene expression regulation through their derivatives and degradation products. Here, we review the current knowledge on mechanisms of snoRNA maturation, including the different pathways of processing, and the regulatory mechanisms that control snoRNA levels and complex assembly. We also discuss the significance of studying snoRNA maturation, highlight the gaps in the current knowledge and suggest directions for future research in this area.

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U8 variants on the brain: a small nucleolar RNA and human disease

Cited by 8 publications

References 55 publications

Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations

Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations

Unmasking the biological function and regulatory mechanism of NOC2L: a novel inhibitor of histone acetyltransferase

Maturation of small nucleolar RNAs: from production to function

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