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SGCE isoform characterization and expression in human brain: implications for myoclonus–dystonia pathogenesis?
Open accessAbstract
Myoclonus-dystonia (M-D) is a neurological movement disorder with involuntary jerky and dystonic movements as major symptoms. About 50% of M-D patients have a mutation in ɛ-sarcoglycan (SGCE), a maternally imprinted gene that is widely expressed. As little is known about SGCE function, one can only speculate about the pathomechanisms of the exclusively neurological phenotype in M-D. We characterized different SGCE isoforms in the human brain using ultra-deep sequencing. We show that a major brain-specific isoform is differentially expressed in the human brain with a notably high expression in the cerebellum, namely in the Purkinje cells and neurons of the dentate nucleus. Its expression was low in the globus pallidus and moderate to low in caudate nucleus, putamen and substantia nigra. Our data are compatible with a model in which dysfunction of the cerebellum is involved in the pathogenesis of M-D.
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Nfasc and Sgce are differentially spliced in neurons and glia, and this is confirmed in our splicing database.
“Two particularly interesting examples include the differential expression of neuronal and glial isoforms of Nfasc and Sgce genes (Zonta et al., 2008;Ritz et al., 2011), both of which are confirmed in our splicing database, among others.”
From An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex (2014) · cites this paper as Ritz et al., 2011
The SGCE mRNA isoforms section reports alternative splicing, and the Localization of SGCE mRNA isoforms in human brain section reports that exon 11b and total SGCE signals were most prominent in neurons. It reports only faint signals in glial cells, not distinct glial SGCE isoforms or differential splicing between neurons and glia. The cited paper is not being offered as evidence for Nfasc or for the citing authors’ database. (LLM, conf=0.86)
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Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics
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Zhang, Y., Chen, K., Sloan, S. A., Bennett, M. L., Scholze, A. R., O'Keeffe, S., Phatnani, H. P., Guarnieri, P., Caneda, C., Ruderisch, N., et al. (2014) · The Journal of Neuroscience · doi:10.1523/jneurosci.1860-14.2014 · Cited by 4,875
“Two particularly interesting examples include the differential expression of neuronal and glial isoforms of Nfasc and Sgce genes (Zonta et al., 2008; Ritz et al., 2011), both of which are confirmed in our splicing database, among others.”
Background
Metadata
- Authors
- Ritz, K., van Schaik, B. D., Jakobs, M. E., van Kampen, A. H., Aronica, E., Tijssen, M. A., & Baas, F.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Corresponding author
- Baas, Frank
- ORCID
- Venue
- European Journal of Human Genetics
- Published
- 2010-12-15
- Volume
- 19
- Issue
- 4
- Pages
- 438-444
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- PMC
- PMC3060322
- OpenAlex
- W2163495044
- Cited by
- 90
- References
- 1
- Citations by year
- 2026: 8 · 2025: 8 · 2024: 6 · 2023: 1 · 2022: 4 · 2021: 3 · 2020: 7 · 2019: 6 · 2018: 4 · 2017: 4 · 2016: 5 · 2015: 6 · 2014: 6 · 2013: 5 · 2012: 9
- FWCI
- 4.20
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- HAL (submittedVersion, other-oa)
- Trinity's Access to Research Output (TARA) (Trinity College Dublin) (submittedVersion)
- Funders
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (N01 HD 43383, N01-HD-4-3368)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Deep Brain Stimulation and Movement Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Glycogen Storage Diseases and Myoclonus
- Keywords
- myoclonus-dystonia, SGCE, epsilon-sarcoglycan, alternative splicing, isoform expression, human brain, cerebellum, Purkinje cells, dentate nucleus, globus pallidus, substantia nigra, pathogenesis, ultra-deep sequencing
- MeSH terms
- Aged, Aged, 80 and over, Brain, Female, Humans, Male, Middle Aged, Mutation, Neurons, Pedigree, Phenotype, Purkinje Cells, Alternative Splicing, Genomic Imprinting, Protein Isoforms, Dystonic Disorders, Sarcoglycans
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