What is gene ontology?
Gene ontology, as defined by Gene Ontology Consortium is a framework for modeling biology. It allows scientists and researchers to describe gene function by placing genes into classes related to molecular function, cellular component, and biological processes. This gives scientists a common "language" in which to describe and discuss genes.
Cellular Component
The cellular component refers to the location within the cell that the gene products are active.
Molecular Function
Molecular function describes the molecular activities of gene products.
Biological Process
The biological process defines the pathways and processes that the gene product participates in after translation (Gene Ontology 1999).
Cellular Component
The cellular component refers to the location within the cell that the gene products are active.
Molecular Function
Molecular function describes the molecular activities of gene products.
Biological Process
The biological process defines the pathways and processes that the gene product participates in after translation (Gene Ontology 1999).
SHANK3 Ontology
Cellular Components
A location within the cell that the SHANK3 products are active is the dendritic spine. Dendritic spines, as seen in the diagram, are small protrusions from the dendritic shaft of neurons. This is the portion of the neuron in which input is received from other excitatory axons (Rochefort 2012). Along with this, SHANK3 increases the response of ionotropic glutamate receptors. These are ligand-gated ion channels which non-selectively allow for the passage of sodium and potassium into the cell. Finally, the plasma post-synaptic membrane can be a specific target for SHANK3 protein products. The plasma membrane, specifically the post-synaptic membrane, is the area of the membrane that will "open" or "close" in result of binding of neurotransmitters (Purves 2001).
Molecular Function
The molecular activity that SHANK3 most actively participates in is the positive regulation of synaptic transmission. This is the process which activates, maintains, or increases the frequency of glutamatergic synaptic transmission. In simplicity, this is the process of communication between neurons across a synapse. The specific neurotransmitter used is glutamate.
Biological Processes
SHANK3 is involved in few biological processes, all related to the nervous system. The first process is synaptic growth at the neuromuscular junction. Growth of the synapse at the neuromuscular junction is important in learning and memory. It is also involved in dendritic spine morphogenesis, or the generation of the dendritic spine. This process is necessary for synaptic transmission. Finally, SHANK3 is involved in postsynaptic density assembly, or the bonding of a set of components to form a region involved in postsynaptic excitation.
Discussion
Knowing and understanding the gene ontology associated with the SHANK3 gene is vital in order to identify what further research is necessary. It is also important in order to understand the correlation between the SHANK3 gene and intelligence as well as diseases such as autism and 22q11.2 deletion syndrome. By examining the known cellular components, molecular functions, and biological processes, I was also able to identify certain gaps in knowledge that led me to my specific aims.
References:
Gene Ontology Consortium. (1999). Retrieved February 23, 2018, from http://www.geneontology.org/
Purves D, Augustine GJ, Fitzpatrick D, et al., editors. Neuroscience. 2nd edition. Sunderland (MA): Sinauer Associates; 2001. Glutamate Receptors. Available from: https://www.ncbi.nlm.nih.gov/books/NBK10802/
Rochefort, N. L., & Konnerth, A. (2012). Dendritic spines: from structure to in vivo function. EMBO Reports, 13(8), 699–708. http://doi.org/10.1038/embor.2012.102
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http://ronneb.com/5-cs-to-improve-your-communication-skills/
Gene Ontology Consortium. (1999). Retrieved February 23, 2018, from http://www.geneontology.org/
Purves D, Augustine GJ, Fitzpatrick D, et al., editors. Neuroscience. 2nd edition. Sunderland (MA): Sinauer Associates; 2001. Glutamate Receptors. Available from: https://www.ncbi.nlm.nih.gov/books/NBK10802/
Rochefort, N. L., & Konnerth, A. (2012). Dendritic spines: from structure to in vivo function. EMBO Reports, 13(8), 699–708. http://doi.org/10.1038/embor.2012.102
Header:
http://ronneb.com/5-cs-to-improve-your-communication-skills/
This web page was produced as an assignment for Genetics 564, an undergraduate capstone course at UW-Madison.