*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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Subcellular Localization
Dindot et al. found that the UBE3A gene is expressed in most brain regions, such as the hippocampus, cortex, thalamus, olfactory bulb and cerebellum. They found that the maternal allele was highly expressed in the cortical and hippocampal pyramidal neurons, and also in Purkinje cells. This result supports the idea that the paternal allele is silenced and only the maternal allele is actively expressed.
In the neuronal cell population, the E6-AP protein was found to localize mainly to the nucleus, and also in the cytoplasm of the cell body as well as in dendrites.
References:
[1] Dindot, S. V., Antalffy, B. A., Bhattacharjee, M. B., Beaudet, A. L. (2007). The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Human Molecular Genetics, 17(1): 111-118. doi:10.1093/hmg/ddm288
Dindot et al. found that the UBE3A gene is expressed in most brain regions, such as the hippocampus, cortex, thalamus, olfactory bulb and cerebellum. They found that the maternal allele was highly expressed in the cortical and hippocampal pyramidal neurons, and also in Purkinje cells. This result supports the idea that the paternal allele is silenced and only the maternal allele is actively expressed.
In the neuronal cell population, the E6-AP protein was found to localize mainly to the nucleus, and also in the cytoplasm of the cell body as well as in dendrites.
References:
[1] Dindot, S. V., Antalffy, B. A., Bhattacharjee, M. B., Beaudet, A. L. (2007). The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Human Molecular Genetics, 17(1): 111-118. doi:10.1093/hmg/ddm288
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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