*The picture in the header was taken from here.
This web page was produced as an assignment for Genetics 677, an undergraduate course at UW-Madison.
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Microarray
Microarray data is useful to determine the expression levels of a group of genes. By knocking out a gene of interest or introducing a mutation in it, we can then look at how it affects the expression of other genes. This is useful as it tells us what genes are interacting or dependent on our gene of interest as well as how these genes are regulated by our gene.
GEO Profiles was used to search for microarray data for UBE3A while GEO DataSets was used by using "Angelman Syndrome" as the search term. GEO Profiles did not return any result that is directly related with UBE3A while GEO DataSets only returned 2 results that were not significantly useful.
Fortunately, there is a journal that has the expression profile of Angelman syndrome mice with UBE3A mutation. According to this paper, in the mouse cerebellum, there are 7 upregulated and 57 downregulated genes. The full table can be accessed here. The authors further group these genes into 3 main groups, based on the pathways or network they are involved in. These 3 groups are cell signaling, nervous system development and cell death.
Through this experiment, the author proposed that Nr4a2 might be responsible for the motor dysfunction in AS patients. Besides that, the downregulation of many neurotransmitter receptors such as Glra1, Gabra5 and Chrna4 could affect neuro-signal transduction that could lead to abnormal neuronal and motor activities.
Figure 1: The genes are group into 3 categories. Figure adapted from [3].
References:
[1] GEO Profiles
[2] GEO DataSets
[3] Low, D., Chen, K. (2010). Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation. European Journal of Human Genetics, 18(11): 1228–1235. doi:10.1038/ejhg.2010.95
[1] GEO Profiles
[2] GEO DataSets
[3] Low, D., Chen, K. (2010). Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation. European Journal of Human Genetics, 18(11): 1228–1235. doi:10.1038/ejhg.2010.95
If you find my website helpful, please consider donating to the Foundation for Angelman Syndrome Therapeutics (FAST)
Created by Jonathan Mok
[email protected]
Last updated 02/23/2012
Genetics 677
Created by Jonathan Mok
[email protected]
Last updated 02/23/2012
Genetics 677