Down syndrome, also referred to as trisomy 21, is a chromosomal abnormality in which the 21st human chromosome is partially or entirely duplicated. It is associated with a myriad of characteristics, including distinct facial deformities, intellectual disability, a heart defect, low muscle tone, and development of Alzheimer's disease symptoms with aging. This duplication is associated with increased levels of gene expression relative to what is present in euploid cells and disrupts the structure of some gene products. This study examines current mouse models of trisomy 21, describes a bioinformatics approach to evaluate relationships between genes on chromosome 21, and to determine the role they may play in Down syndrome associated intellectual disability.
The Ts1Rhr, Tc1, and Ts65Dn mouse models are compared and contrasted to human trisomy 21. Representation of intellectual disability is determined by how the mice in each model perform on learning and memory tasks. Each model is examined for duplication of Down syndrome associated genes as well as for body weight, cerebral size, cerebellar size, balance, motor coordination, learning and memory, attention, activity, presence or absence of a heart defect, and presence or absence of a craniofacial defect.
Next, a bioinformatics approach is proposed as tool with the capacity to examine the individual genes on chromosome 21, the relationships between the genes, group genes together by functional similarity and biological implication, and then establish which of these groups are enriched. The combined evaluation of mouse models and bioinformatics can be used as an innovative way to study the involvement in the intellectual disability associated with Down syndrome. Through the review of current mouse models and the evaluation of individual chromosome 21 genes using bioinformatics resources, the study seeks to determine what insights on intellectually disability can be gained.
| Identifer | oai:union.ndltd.org:bu.edu/oai:open.bu.edu:2144/15362 |
| Date | 12 March 2016 |
| Creators | Chithambo, Mayeso |
| Source Sets | Boston University |
| Language | en_US |
| Detected Language | English |
| Type | Thesis/Dissertation |
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