Classification of human chromosome 21 gene-expression variations in down syndrome: impact on disease phenotypes
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Down syndrome caused by chromosome 21 trisomy is the most common genetic cause of mental retardation in humans. Disruption of the phenotype is thought to be the result of gene-dosage imbalance. Variations in chromosome 21 gene expression in Down syndrome were analyzed in lymphoblastoid cells derived from patients and control individuals. Of the 359 genes and predictions displayed on a specifically designed high-content chromosome 21 microarray, one-third were expressed in lymphoblastoid cells. We performed a mixed-model analysis of variance to find genes that are differentially expressed in Down syndrome independent of sex and interindividual variations. In addition, we identified genes with variations between Down syndrome and control samples that were significantly different from the gene-dosage effect (1.5). Microarray data were validated by quantitative polymerase chain reaction. We found that 29% of the expressed chromosome 21 transcripts are overexpressed in Down syndrome and correspond to either genes or open reading frames. Among these, 22% are increased proportional to the gene-dosage effect, and 7% are amplified. The other 71% of expressed sequences are either compensated (56%, with a large proportion of predicted genes and antisense transcripts) or highly variable among individuals (15%). Thus, most of the chromosome 21 transcripts are compensated for the gene-dosage effect. Overexpressed genes are likely to be involved in the Down syndrome phenotype, in contrast to the compensated genes. Highly variable genes could account for phenotypic variations observed in patients. Finally, we show that alternative transcripts belonging to the same gene are similarly regulated in Down syndrome but sense and antisense transcripts are not.
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Some have reported dosage compensation for some genes.
“A frequent assumption regarding gene dosage effects in trisomy is that expression of all trisomic genes is upregulated according to the gene copy number (1.5-fold) in every cell in the body throughout the lifespan of the individual, though some have reported dosage compensation for some genes (Ait Yahya-Graison et al., 2007; Hwang et al., 2021; Kahlem et al., 2004; Lyle et al., 2004).”
From Sex-specific developmental alterations in DYRK1A expression in the brain of a Down syndrome mouse model (2024) · cites this paper as Ait Yahya-Graison et al., 2007
A frequent assumption regarding gene dosage effects in trisomy is that expression of all trisomic genes is upregulated according to the gene copy number (1.5-fold) in every cell in the body throughout the lifespan.
“A frequent assumption regarding gene dosage effects in trisomy is that expression of all trisomic genes is upregulated according to the gene copy number (1.5-fold) in every cell in the body throughout the lifespan of the individual, though some have reported dosage compensation for some genes (Ait Yahya-Graison et al., 2007; Hwang et al., 2021; Kahlem et al., 2004; Lyle et al., 2004).”
From Sex-specific developmental alterations in DYRK1A expression in the brain of a Down syndrome mouse model (2024) · cites this paper as Ait Yahya-Graison et al., 2007
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- Authors
- Aït Yahya-Graison, E., Aubert, J., Dauphinot, L., Rivals, I., Prieur, M., Golfier, G., Rossier, J., Personnaz, L., Créau, N., Bléhaut, H., Robin, S., Delabar, J. M., & Potier, M.-C.
- Affiliations
- Institut National de la Recherche Agronomique (FR)
- Centre National de la Recherche Scientifique (FR)
- Hôpital Necker-Enfants Malades (FR)
- Université Paris Diderot (FR)
- Fondation Jérôme-Lejeune (FR)
- Corresponding author
- Potier, M.-C.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2007-09
- Volume
- 81
- Issue
- 3
- Pages
- 475-491
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1950826
- OpenAlex
- W2149414924
- Cited by
- 338
- References
- 53
- Citations by year
- 2026: 6 · 2025: 11 · 2024: 8 · 2023: 11 · 2022: 14 · 2021: 15 · 2020: 11 · 2019: 10 · 2018: 38 · 2017: 12 · 2016: 22 · 2015: 14 · 2014: 11 · 2013: 23 · 2012: 24
- FWCI
- 19.29
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- Down syndrome, gene expression, gene dosage imbalance, compensatory gene expression, transcriptome, lymphoblastoid cell lines, phenotypic variability, antisense transcripts, splice variants, gene expression microarrays, intellectual disability
- MeSH terms
- Base Sequence, Chromosomes, Human, Pair 21, Down Syndrome, Female, Humans, Male, Molecular Sequence Data, Phenotype, Transcription, Genetic, Genetic Variation, Gene Expression, Oligonucleotide Array Sequence Analysis
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