*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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Literature Review
The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc
Cell, Volume 140, Issue 5, 704-716, 2010
by Greer, P.L., et al. doi:10.1016/j.cell.2010.01.026
Angelman Syndrome (AS) is a neurodevelopmental disorder. Although the UBE3A gene has been linked to this disorder, researchers have yet to fully understand how mutation in this gene gives rise to the syndrome. Studies have shown that the UBE3A gene is responsible for making proteins which tag certain proteins in the brain to be degraded. This biological process is important in maintaining normal brain functions as certain proteins have to be degraded at specific time to promote brain growth or synapses formation. Therefore, defects in this pathway could lead to AS.
In this experiment, the researchers sought to seek how disruption in UBE3A affects synapses. They performed various experiments on mice and found that the UBE3A protein interacts with proteins that are critical for neurotransmission and information processing. The authors concluded that in AS patients, absence of the UBE3A gene could disrupt these processes and therefore, affect cognitive functions .
References:
[1] Greer, P.L., Hanayama, R., Bloodgood, B. L., Mardinly, A. R., Lipton, D. M., Flavell, S. W., Kim, T., Griffith, E. C., Waldon, Z., Maehr, R., Ploegh, H. L., Chowdhury, S., Worley, P. F., Steen, J., Greenberg, M. E. (2010). The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc. Cell 140 (5): 704-716. doi:10.1016/j.cell.2010.01.026
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 05/01/2012
Genetics 677
Created by Jonathan Mok
[email protected]
Last updated 05/01/2012
Genetics 677