This web page was produced as an assignment for Genetics 677, an undergraduate course at UW-Madison.
What is Gene Ontology (GO)?
Ontology is a philosophical term that deals with what "things" are in existence, and how can those things be grouped, related to each other, and subdivided. [1] The Gene Ontology project has adopted this idea to apply is applying it to biological research. As you may have noticed on the Protein Homology page, what is essentially the same thing can be referred to in different ways based on which organism it's found in. The GO project is working towards creating a more consistent vocabulary concerning genes and gene products and information processing tools so that information can be easily shared between researchers who work with different model organisms. [2]
GO Domains
The GO project acknowledges that three domains in which gene product properties can fall. They are:
- Biological Process: How the gene product interacts in the functioning of the cell, tissue, or organism
- Cellular Component: What role the gene product plays in a cell or the extracellular environment
- Molecular Function: Molecular level activities of the gene product- essentially the bare bones of what it does.
AmiGO
AmiGO is an online tool used to search and access data from that has been annotated in GO terms. [3] It was used to find the information below.
Biological ProcessErythrocyte Development
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Cellular ComponentSpectrin-associated Cytoskeleton
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Molecular FunctionSpectrin Binding
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Analysis
In cases of Hereditary Spherocytosis, the ANK1 is mutated in such a way that the ANK-1 protiein and spectrin interactions can't correctly occur. The most important thing to note from the ontology that I show here are how spectrin binding is the end of the molecular function train, and aberrant interactions are responsible for the misshapen red blood cells that cause symptoms such as anemia and splenomegaly. This means that it would be advantageous to look for a treatment option that would restore functional protein interaction which would in turn improve anemia and other symptoms.
References
- T. R. Gruber. A translation approach to portable ontologies. Knowledge Acquisition, 5(2):199-220, 1993
- The Gene Ontology Consortium. Gene ontology: tool for the unification of biology. Nat. Genet.. May 2000;25(1):25-9.
- Gene Ontology Consortium Wiki http://wiki.geneontology.org/index.php/AmiGO_Manual:_Overview