Abstract
Down Syndrome (DS) or Trisomy 21 (Ts21) is the most common genetic cause of mental retardation in human newborns 1. While some DS individuals manifest cognitive decline as they age, those DS individuals who survive to become adults invariably have the neuropathologic stigmata of Alzheimer’s disease (AD) at autopsy 2. Overexpression of individual genes on human chromosome 21 (HSA 21) may contribute to the pathogenesis of these neuropathologic changes in both DS individuals and in AD patients 3. To explore this possibility, we study a model system, the trisomy 16 (Ts16) mouse. Mouse chromosome 16 (MMU 16) and HSA 21 exhibit significant genetic homology for a cluster of genes whose overexpression as a result of triplication is thought to contribute to the phenotypic characteristics of DS 4.
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Fisher, S., Oster-Granite, M.L. (1990). Developmental Expression of Amyloid Precursor Protein in Normal and Trisomy 16 Mice. In: Lauder, J.M., Privat, A., Giacobini, E., Timiras, P.S., Vernadakis, A. (eds) Molecular Aspects of Development and Aging of the Nervous System. Advances in Experimental Medicine and Biology, vol 265. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-5876-4_30
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DOI: https://doi.org/10.1007/978-1-4757-5876-4_30
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