Lecture9DSXinact

Memory reduced cerebellum volume degeneraon of bcn s

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memory, reduced cerebellum volume, degenera$on oF B±CN ` s Ts1Cje mouse: similar to Ts65Dn, slightly milder Most oF mouse orthologs oF human chromosome 21 gene are located on mouse chromosome 16. 400-500 genes
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How do you assay cognitive defects in mice? Example: Morris Water Maze http://www.youtube.com/watch?v=LrCzSIbvSN4
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Many therapies are currently being tested on Ts65Dn mice One example: Neuroinflammation may be a contributing factor to neurodegeneration in DS. Ts65Dn mice show elevated level of neuroinflammatory markers Minocycline – anti-inflammatory drug, in clinical trials for Parkinson ` s and Huntington ` s diseases Ts65Dn mice were treated with minocycline for 75 days from 7 months of age Results: improved (though still not normal) performance on water maze, less BFCN degeneration From: Gardiner KJ (2010 ) Molecular basis of pharmacotherapies for cognition in Down syndrome. Trends Pharmacol Sci. 2010 Feb;31(2):66-73
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Which of the following mouse models will allow you to answer the question if DSCAM contributes to the decrease in spatial memory in DS? A. Transgenic mouse carrying an extra copy of DSCAM gene B. A mouse carrying a homozygous knockout of DSCAM C. A conditional knockout mouse crossed in which Cre is driven by a brain-specific promoter D. Ts65Dn mouse
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X chromosomal abnormalities and X inactivation 1. Sex chromosomal abnormalities 2. Klienfelter’s syndrome 3. Mechanisms of X inactivation
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Trisomy Monosomy Non-disjunction of sex chromosomes during gametogenesis Sex chromosome aneuploidy after fertilization
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Klinefelter syndrome: characteristics Klinefelter's syndrome - the condition exists in roughly 1:500 - 1:1000 males. A genetic disorder occurring due to nondisjunction of the X chromosome in mother or father during meiosis, resulting in an individual with a karyotype (47, XXY). XXY males have sparse body hair, are typically tall Infertility - absent or low levels of sperm ~ 30% of Kleinfelter’s patients have some development of breast tissue normally seen in females Occasional mental retardation.
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Klinefelter syndrome. Physical characteristics are variable as shown in
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memory reduced cerebellum volume degeneraon oF BCN s Ts1Cje...

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