ArticlePLoS genetics2015
Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.
Article in PLoS genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Meta-analysis of metabolites involved in bioenergetic pathways reveals a pseudohypoxic state in Down syndrome.Molecular medicine (Cambridge, Mass.) · 2020Pooled it
- High‑intensity exercise training inhibits excessive autophagy in the hyperlipidemic myocardium of ApoEMolecular medicine reports · 2026Article
- Neuronal oscillations in cognition: Down syndrome as a model of mouse to human translation.The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry · 2025Review
- Targeting chromosomal instability in patients with cancer.Nature reviews. Clinical oncology · 2024Review
- Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects.Human genetics · 2023Article
- Dysregulated systemic metabolism in a Down syndrome mouse model.Molecular metabolism · 2023Article
- Comprehensive phenotypic analysis of the Dp1Tyb mouse strain reveals a broad range of Down syndrome-related phenotypes.Disease models & mechanisms · 2021Article
- Multi-influential genetic interactions alter behaviour and cognition through six main biological cascades in Down syndrome mouse models.Human molecular genetics · 2021Article
- Down syndrome is an oxidative phosphorylation disorder.Redox biology · 2021Article
- Co-Operation between Aneuploidy and Metabolic Changes in Driving Tumorigenesis.International journal of molecular sciences · 2019Review
- Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration.PLoS genetics · 2018Article
- A Dynamic Simulation of Musculoskeletal Function in the Mouse Hindlimb During Trotting Locomotion.Frontiers in bioengineering and biotechnology · 2018Article
- Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells.Nature communications · 2017Article
- Rodent models in Down syndrome research: impact and future opportunities.Disease models & mechanisms · 2017Review
- Efficient and rapid generation of large genomic variants in rats and mice using CRISMERE.Scientific reports · 2017Article
- Down syndrome and the complexity of genome dosage imbalance.Nature reviews. Genetics · 2017Review
- Mouse models of Down syndrome: gene content and consequences.Mammalian genome : official journal of the International Mammalian Genome Society · 2016Review
- Mouse-based genetic modeling and analysis of Down syndrome.British medical bulletin · 2016Review
- Muscle moment arms and sensitivity analysis of a mouse hindlimb musculoskeletal model.Journal of anatomy · 2016Article
- Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel.eLife · 2016Article
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Authors and funding
15 authors at 9 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The trisomy of human chromosome 21 (Hsa21), which causes Down syndrome (DS), is the most common viable human aneuploidy. In contrast to trisomy, the complete monosomy (M21) of Hsa21 is lethal, and only partial monosomy or mosaic monosomy of Hsa21 is seen. Both conditions lead to variable physiological abnormalities with constant intellectual disability, locomotor deficits, and altered muscle tone. To search for dosage-sensitive genes involved in DS and M21 phenotypes, we created two new mouse models: the Ts3Yah carrying a tandem duplication and the Ms3Yah carrying a deletion of the Hspa13-App interval syntenic with 21q11.2-q21.3. Here we report that the trisomy and the monosomy of this region alter locomotion, muscle strength, mass, and energetic balance. The expression profiling of skeletal muscles revealed global changes in the regulation of genes implicated in energetic metabolism, mitochondrial activity, and biogenesis. These genes are downregulated in Ts3Yah mice and upregulated in Ms3Yah mice. The shift in skeletal muscle metabolism correlates with a change in mitochondrial proliferation without an alteration in the respiratory function. However, the reactive oxygen species (ROS) production from mitochondrial complex I decreased in Ms3Yah mice, while the membrane permeability of Ts3Yah mitochondria slightly increased. Thus, we demonstrated how the Hspa13-App interval controls metabolic and mitochondrial phenotypes in muscles certainly as a consequence of change in dose of Gabpa, Nrip1, and Atp5j. Our results indicate that the copy number variation in the Hspa13-App region has a peripheral impact on locomotor activity by altering muscle function.
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