This web page was produced as an assignment for Genetics 677, an undergraduate course at UW-Madison
Conclusions
The purpose of this website was to delve into the genomics and proteomics of Fragile X syndrome and present information I isolated from different web databases in a manner that facilitates curiosity of many educational levels. Here on this conclusions page I will revisit the main points from the genomics and proteomics pages and bring all the information together to hopefully put some of the Fragile X syndrome puzzle together.
To begin with we’ll look back at the Gene Ontology of FMR1 protein. FMRP has all three G.O. characterizations, biological processes, cellular components and molecular functions. The two characterizations that I found to be interesting were the biological processes and the molecular functions as both are crucial for the transport and regulation of translation of other proteins in the spine as hypothesized by the two papers by Westmark et al. [1] and Napoli, I., Mercaldo, V. et al. [2]. Gene Ontology created characterizations that help us understand the importance of the motifs found in the FMR1 gene.
Identifying motifs in the FMR1 gene was done in two different programs each, which, looked at something different. MotifFinder [3] isolated many different small motifs in the gene, and Gene Ontology background helped identify possible motifs that were more important. Looking at the molecular function of mRNA binding I looked at the integrity of GATA-binding factors in the gene. The high level of conservation in their sequences proved that these motifs were functionally important in the gene. MEME [4] identified three longer motifs that were unnamed by the MEME program. Even though they remained unmanned their lengths and the number of times they were repeated in the gene it could be concluded that they too had important functions for FMR1.
Looking at a microarray from a distance it is very easy to see that there is differing expression between two or more different states. In the microarray on the page you can see that there were a lot of similarities between Fragile X syndrome patients and patients with a specific chromosome duplication that resulted in autism. I thought that comparing these two “diseased” states and a control helped prove that FXS isn’t just autism and autism isn’t just FXS. I would like to see more microarrays like this in the future comparing the different states of FXS, as they might help isolate other genes that are differentially expressed between different metal states.
The most exciting findings of late are related to chemical genetics and the drug therapies for FXS patients. The abilities of present day medicine to lessen the hyper-activity of the synapses of neurons seems to be beneficial for reestablishing strong connections between the synapses. Check out the in the news page to read more on the ongoing studies with FS patients.
As can be seen by the vast amounts of information compiled from a small sample of web databases there is plenty of directions future research can be directed towards. To see what I proposed as my next step in research of FXS please go to the future directions tab. As with any science based question often more questions come bursting out of the answer of the first question. It was only in 1991 that FMR1 was identified, now 20 years later we have not only created more knowledge on the disease that is the most common form of inherited mental disability world-wide, but also a possible drug treatment to help alleviate some symptoms. The help and desire for knowledge by all those affected by FXS will prove crucial in the upcoming years for further research and answers.
To begin with we’ll look back at the Gene Ontology of FMR1 protein. FMRP has all three G.O. characterizations, biological processes, cellular components and molecular functions. The two characterizations that I found to be interesting were the biological processes and the molecular functions as both are crucial for the transport and regulation of translation of other proteins in the spine as hypothesized by the two papers by Westmark et al. [1] and Napoli, I., Mercaldo, V. et al. [2]. Gene Ontology created characterizations that help us understand the importance of the motifs found in the FMR1 gene.
Identifying motifs in the FMR1 gene was done in two different programs each, which, looked at something different. MotifFinder [3] isolated many different small motifs in the gene, and Gene Ontology background helped identify possible motifs that were more important. Looking at the molecular function of mRNA binding I looked at the integrity of GATA-binding factors in the gene. The high level of conservation in their sequences proved that these motifs were functionally important in the gene. MEME [4] identified three longer motifs that were unnamed by the MEME program. Even though they remained unmanned their lengths and the number of times they were repeated in the gene it could be concluded that they too had important functions for FMR1.
Looking at a microarray from a distance it is very easy to see that there is differing expression between two or more different states. In the microarray on the page you can see that there were a lot of similarities between Fragile X syndrome patients and patients with a specific chromosome duplication that resulted in autism. I thought that comparing these two “diseased” states and a control helped prove that FXS isn’t just autism and autism isn’t just FXS. I would like to see more microarrays like this in the future comparing the different states of FXS, as they might help isolate other genes that are differentially expressed between different metal states.
The most exciting findings of late are related to chemical genetics and the drug therapies for FXS patients. The abilities of present day medicine to lessen the hyper-activity of the synapses of neurons seems to be beneficial for reestablishing strong connections between the synapses. Check out the in the news page to read more on the ongoing studies with FS patients.
As can be seen by the vast amounts of information compiled from a small sample of web databases there is plenty of directions future research can be directed towards. To see what I proposed as my next step in research of FXS please go to the future directions tab. As with any science based question often more questions come bursting out of the answer of the first question. It was only in 1991 that FMR1 was identified, now 20 years later we have not only created more knowledge on the disease that is the most common form of inherited mental disability world-wide, but also a possible drug treatment to help alleviate some symptoms. The help and desire for knowledge by all those affected by FXS will prove crucial in the upcoming years for further research and answers.
fmr1_677_presentation_final.ppt | |
File Size: | 3137 kb |
File Type: | ppt |
References
[1] Westmark, C., Westmark, P., Malter, J. (2009) MPEP Reduces Seizure Severity in Fmr-1 KO mice over Expressing Human A. Int J Clin Exp Pathol. 56-68
[2] Napoli, I., Mercaldo, V. et al. The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a New 4E-BP. 2008
[3] MotifFinder
[4] MEME
[2] Napoli, I., Mercaldo, V. et al. The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a New 4E-BP. 2008
[3] MotifFinder
[4] MEME
Aime Agather
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Last Updated 11/08/2010
Genetics 677
[email protected]
Last Updated 11/08/2010
Genetics 677