ArticleScientific reports2016
The HSA21 gene EURL/C21ORF91 controls neurogenesis within the cerebral cortex and is implicated in the pathogenesis of Down Syndrome.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 26 citations in OpenAlex.
- Structural MRI across lifespan reveals differential thalamic trajectories in Down syndrome.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Altered motor coordination, vocal communication, and cerebellar circuit connectivity in mice carrying a near-complete human chromosome 21.Translational psychiatry · 2025Article
- Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects.Human genetics · 2023Article
- Prioritization and functional validation of target genes from single-cell transcriptomics studies.Communications biology · 2023Article
- The Challenging Pathway of Treatment for Neurogenesis Impairment in Down Syndrome: Achievements and Perspectives.Frontiers in cellular neuroscience · 2022Review
- Review
- Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- From Neurodevelopmental to Neurodegenerative Disorders: The Vascular Continuum.Frontiers in aging neuroscience · 2021Review
- C21orf91 Regulates Oligodendroglial Precursor Cell Fate-A Switch in the Glial Lineage?Frontiers in cellular neuroscience · 2021Article
- Prenatal Diagnosis and Genetic Analysis of 21q21.1-q21.2 Aberrations in Seven Chinese Pedigrees.Frontiers in genetics · 2021Article
- Down syndrome: A curative prospect?AIMS neuroscience · 2020Review
- Review
- The Role of C21orf91 in Herpes Simplex Virus Keratitis.Medicina (Kaunas, Lithuania) · 2019Article
- Genome-Wide Association Study of H/L Traits in Chicken.Animals : an open access journal from MDPI · 2019Article
- Data-Driven Analysis of Age, Sex, and Tissue Effects on Gene Expression Variability in Alzheimer's Disease.Frontiers in neuroscience · 2019Article
- Cortical astroglia undergo transcriptomic dysregulation in the G93A SOD1 ALS mouse model.Journal of neurogenetics · 2018Article
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Authors and funding
13 authors at 8 institutions in 3 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Copy number variations to chromosome 21 (HSA21) cause intellectual disability and Down Syndrome, but our understanding of the HSA21 genetic factors which contribute to fetal brain development remains incomplete. Here, we focussed on the neurodevelopmental functions for EURL (also known as C21ORF91, Refseq Gene ID:54149), a protein-coding gene at the centromeric boundary of the Down Syndrome Critical Region (DSCR) of HSA21. We report that EURL is expressed during human and mouse cerebral cortex development, and we report that alterations to EURL mRNA levels within the human brain underlie Down Syndrome. Our gene perturbation studies in mice demonstrate that disruptions to Eurl impair progenitor proliferation and neuronal differentiation. Also, we find that disruptions to Eurl impair the long-term positioning and dendritic spine densities of cortical projection neurons. We provide evidence that EURL interacts with the coiled-coil domain-containing protein CCDC85B so as to modulate β-catenin levels in cells. Further, we utilised a fluorescent reporter (8xTOPFLASHd2EGFP) to demonstrate that disruptions to Eurl alter β-catenin signalling in vitro as well as in vivo. Together, these studies highlight EURL as an important new player in neuronal development that is likely to impact on the neuropathogenesis of HSA21-related disorders including Down Syndrome.
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