A gene expression map of human chromosome 21 orthologues in the mouse
Open accessAbstract
The DNA sequence of human chromosome 21 (HSA21) has opened the route for a systematic molecular characterization of all of its genes. Trisomy 21 is associated with Down's syndrome, the most common genetic cause of mental retardation in humans. The phenotype includes various organ dysmorphies, stereotypic craniofacial anomalies and brain malformations. Molecular analysis of congenital aneuploidies poses a particular challenge because the aneuploid region contains many protein-coding genes whose function is unknown. One essential step towards understanding their function is to analyse mRNA expression patterns at key stages of organism development. Seminal works in flies, frogs and mice showed that genes whose expression is restricted spatially and/or temporally are often linked with specific ontogenic processes. Here we describe expression profiles of mouse orthologues to HSA21 genes by a combination of large-scale mRNA in situ hybridization at critical stages of embryonic and brain development and in silico (computed) mining of expressed sequence tags. This chromosome-scale expression annotation associates many of the genes tested with a potential biological role and suggests candidates for the pathogenesis of Down's syndrome.
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Several groups have carried out screens for novel genes expressed in the endoderm of Xenopus and mouse embryos using microarray or cDNA hybridization.
“Several groups have carried out screens for novel genes expressed in the endoderm of Xenopus and mouse embryos using microarray or cDNA hybridization [25-29].”
From A systematic screen for genes expressed in definitive endoderm by Serial Analysis of Gene Expression (SAGE) (2007) · cites this paper as [28]
The paper’s expression-mapping passage (labelled Abstract in our copy; no page given) describes a systematic screen of genes in mouse embryos using whole-mount in situ hybridization. It does not describe a screen specifically for endoderm-expressed genes or say that this screen used a microarray or cDNA hybridization. The Xenopus portion may relate to other citations in the group, not this mouse study. (LLM, conf=0.85)
Experimental — accuracy not yet measuredDespite identification of several endoderm enriched genes, no novel DE specific genes were identified.
“Despite the identification of several endoderm enriched genes, no novel DE specific genes were identified.”
From A systematic screen for genes expressed in definitive endoderm by Serial Analysis of Gene Expression (SAGE) (2007) · cites this paper as [28]
The paper’s expression-mapping passages (indexed as Abstract; page not provided) describe human chromosome 21 orthologues in mouse embryos, but do not address endoderm-enriched genes or whether novel definitive-endoderm-specific genes were identified. Searches for “endoderm” and “DE specific genes” found no passage that settles the claim. (LLM, conf=0.74)
Experimental — accuracy not yet measuredPrevious studies have used cDNA cloning or microarray analysis to screen for novel endoderm genes.
“Previous studies focusing on screening for novel endoderm genes have used cDNA cloning or microarray analysis [25-29,40].”
From A systematic screen for genes expressed in definitive endoderm by Serial Analysis of Gene Expression (SAGE) (2007) · cites this paper as [28]
The paper’s expression-mapping passage (labelled Abstract in our copy; page unavailable) describes screening human chromosome 21 orthologues in mouse embryos using whole-mount in situ hybridization and EST mining. Searches for endoderm, cDNA cloning, and microarray screening found no passage showing that this study screened for novel endoderm genes by either method. (LLM, conf=0.77)
Experimental — accuracy not yet measured
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Research works printed but not linked: 9
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“Previous studies focusing on screening for novel endoderm genes have used cDNA cloning or microarray analysis [25-29,40].”
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Self-citation
- Authors
- initiative, T. H. E. M., *Group 1:, Gitton, Y., Dahmane, N., Baik, S., Ruiz i Altaba, A., *Group 2:, Neidhardt, L., Scholze, M., Herrmann, B. G., *Group 3:, Kahlem, P., Benkahla, A., Schrinner, S., Yildirimman, R., Herwig, R., Lehrach, H., & Yaspo, M.-L.
- Affiliations
- NYU Langone Health (US)
- Centre National de la Recherche Scientifique (FR)
- Max Planck Society (DE)
- Max Planck Institute for Molecular Genetics (DE)
- ORCID
- Venue
- Nature
- Published
- 2002-12-05
- Volume
- 420
- Issue
- 6915
- Pages
- 586-590
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2072032642
- Cited by
- 127
- References
- 0
- Citations by year
- 2026: 1 · 2024: 1 · 2020: 2 · 2019: 1 · 2018: 3 · 2017: 2 · 2015: 3 · 2014: 2 · 2013: 3 · 2012: 2
- FWCI
- 18.67
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Archive ouverte UNIGE (University of Geneva) (publishedVersion)
- HAL (submittedVersion)
- Max Planck Institute for Plasma Physics (submittedVersion)
- Max Planck Digital Library (submittedVersion)
- MPG.PuRe (Max Planck Society) (submittedVersion)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by)
- Funders
- European Commission
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
- Bundesministerium für Bildung und Forschung
- Max-Planck-Gesellschaft
- National Institutes of Health
- National Cancer Institute
- National Institute of Neurological Disorders and Stroke
- Institute of Genetics
- Topics
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- chromosome 21, Down syndrome, gene expression profiling, embryonic development, brain development, expressed sequence tags, gene function annotation, craniofacial anomalies, intellectual disability
- MeSH terms
- Animals, Brain, Chromosomes, Human, Pair 21, Down Syndrome, Humans, RNA, Messenger, Sequence Homology, Nucleic Acid, Gene Library, In Situ Hybridization, Gene Expression Regulation, Developmental, Expressed Sequence Tags, Gene Expression Profiling, Mice
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