Genetic basis for a mouse model of down syndrome.
Open accessAbstract
The Trisomy 16 (Ts16) mouse has been proposed as a model for Down Syndrome (DS) in humans, based on genetic homology between mouse chromosome 16 (MMU 16) and human chromosome 21 (HSA 21). Translocations of HSA 21 resulting in trisomy for only a portion of the genetic information contained on this chromosome can result in a DS phenotype. Thus, these translocations help to define a "DS region" of the chromosome. A number of genes from this DS region of HSA 21 have been mapped to MMU 16. Techniques for localizing genes on chromosomes have been used to identify the portion of MMU 16 which corresponds to the DS region of HSA 21. This region appears to be highly conserved between mouse and human, providing further support for a mouse model of DS.
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The first mouse model of Down syndrome was the Trisomy 16 (Ts16) mouse which harbored triplication of mouse chromosome 16 (MMU16), containing a large region of genes syntenic to those on HSA21 as well as many genes that are not represented on HSA21.
“The first mouse model of DS was the Trisomy 16 (Ts16) mouse which harbored triplication of mouse chromosome 16 (MMU16), containing a large region of genes syntenic to those on HSA21 as well as many genes that are not represented on HSA21 (Reeves et al., 1986).”
From Neurodevelopment in Down syndrome: Concordance in humans and models (2022) · cites this paper as Reeves et al., 1986
The Ts16 mouse trisomy was perinatally lethal, so experiments were limited to embryonic periods, preventing understanding of postnatal features of Down syndrome.
“While this mouse partially modeled the genetics of DS, the trisomy was perinatally lethal, so experiments were limited to embryonic periods, preventing understanding of postnatal features of DS.”
From Neurodevelopment in Down syndrome: Concordance in humans and models (2022) · cites this paper as Reeves et al., 1986
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Altered long-term potentiation in the young and old Ts65Dn mouse, a model for down syndrome
Siarey, R. J., Stoll, J., Rapoport, S. I., & Galdzicki, Z. (1997) · Neuropharmacology · doi:10.1016/s0028-3908(97)00157-3 · Cited by 222 · see citing works
Neurodevelopment in Down syndrome: Concordance in humans and models
Klein, J. A., & Haydar, T. F. (2022) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2022.941855 · Cited by 47 · see citing works
“While animal models have the benefit of studying cellular and molecular underpinnings of DS in an intact tissue system that has behavioral read outs, they lack direct translatability to humans that comes with working with a system that triplicates the full complement of coding and non-coding genes found on HSA21.”
BackgroundInfluential
- Authors
- Reeves, R. H., Gearhart, J. D., & Littlefield, J. W.
- Affiliations
- Johns Hopkins University (US)
- Corresponding author
- Reeves, R.H.
- ORCID
- Reeves, R.H.
- Venue
- Brain Research Bulletin
- Publisher
- Elsevier BV
- Published
- 1986-06
- Volume
- 16
- Issue
- 6
- Pages
- 803-814
- ISSN
- 0361-9230 (ISSN-L)
- OpenAlex
- W2071016609
- Cited by
- 93
- References
- 0
- Citations by year
- 2024: 2 · 2023: 1 · 2022: 1 · 2018: 1 · 2016: 1 · 2015: 1 · 2014: 1 · 2012: 1
- FWCI
- 16.97
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Brain Research Bulletin (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD-19920, HD16303, HD 19932)
- 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, mouse model, chromosome 21, mouse chromosome 16, chromosomal translocation, gene mapping
- MeSH terms
- Animals, Chromosome Mapping, Chromosomes, Human, Pair 21, Disease Models, Animal, Down Syndrome, Humans, Genetic Linkage, Mice, Neurologic Mutants, Nucleic Acid Hybridization, Translocation, Genetic, Mice
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