Global up-regulation of chromosome 21 gene expression in the developing down syndrome brain
Abstract
Down syndrome (DS) results from complete or partial triplication of human chromosome 21. It is assumed that the neurological and other symptoms are caused by the overexpression of genes on chromosome 21, but this hypothesis has not yet been assessed on a chromosome-wide basis. Here we show that expression of genes localized to chromosome 21 is globally up-regulated in human fetal trisomy 21 cases, both in cerebral cortex extracts and in astrocytic cell lines cultured from cerebral cortex. This abnormal regulation of gene expression is specific to chromosome 21. Our data describe transcriptional changes that are specific to many genes assigned to chromosome 21 and do not directly measure the clinical phenotype of DS. However, it is possible that these gene expression changes ultimately relate to the phenotypic variability of DS.
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Quantification of both mRNA and protein levels in brains of individuals with DS from fetal to adult stages have shown that not all trisomic genes are dysregulated or expressed at 1.5-fold.
“Quantification of both mRNA and protein levels in brains of individuals with DS from fetal to adult stages have shown that not all trisomic genes are dysregulated or expressed at 1.5-fold (Lockstone et al., 2007; Mao et al., 2005; Mao et al., 2003).”
From Sex-specific developmental alterations in DYRK1A expression in the brain of a Down syndrome mouse model (2024) · cites this paper as Mao et al., 2003
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References 37 · Cited by 207
- Authors
- Mao, R., Zielke, C. L., Ronald Zielke, H., & Pevsner, J.
- Affiliations
- Johns Hopkins University (US)
- University of Maryland, Baltimore (US)
- Kennedy Krieger Institute (US)
- Corresponding author
- Pevsner, Jonathan
- Venue
- Genomics
- Publisher
- Elsevier BV
- Published
- 2003-05
- Volume
- 81
- Issue
- 5
- Pages
- 457-467
- ISSN
- 0888-7543 (ISSN-L)
- OpenAlex
- W2085702771
- Cited by
- 207
- References
- 37
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 2 · 2023: 9 · 2022: 5 · 2021: 9 · 2020: 2 · 2019: 8 · 2018: 3 · 2017: 7 · 2016: 8 · 2015: 6 · 2014: 5 · 2013: 8 · 2012: 10
- FWCI
- 18.61
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Genomics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Johns Hopkins University
- U.S. Public Health Service (16596)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- Down syndrome, fetal brain development, cerebral cortex, astrocytes, transcriptional regulation, phenotypic variability, gene expression profiling
- MeSH terms
- Animals, Astrocytes, Brain, Chromosomes, Human, Pair 21, Down Syndrome, Humans, Mice, Transgenic, RNA, Messenger, Up-Regulation, Gene Expression, Oligonucleotide Array Sequence Analysis, Gene Expression Profiling, Principal Component Analysis, Mice
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