This web page was produced as an assignment for Genetics 564, an undergraduate course at UW-Madison.
what is Gene ontology?
A rather important bioinformatic technique in recent years has been the involvement of gene ontology, or the description of a gene to various subcomponents [1]. In order to provide information of a gene in a single location, gene ontology focuses gene functions into three categories: Biological Process, Molecular Function, and Cellular Component. By grouping this information, the role and function of a gene can be identified, indicating what types of future research and model organisms should be used to study various diseases.
But what exactly do these gene ontology groups describe? Each category serves the role of isolating an activity the gene is involved in, though each category has a varying specificity. The biological process grouping represents what processes, from start to finish, the gene is a part of. Meanwhile, the molecular function grouping indicates various gene activities on a cellular level. Lastly, the cellular component grouping indicates where the gene may be located within the cell [1].
Together, this information provides researchers with a strong foundation of how a gene functions. Observed below is how the gene ontology database, or GO, was utilized to categorize PSEN1.
But what exactly do these gene ontology groups describe? Each category serves the role of isolating an activity the gene is involved in, though each category has a varying specificity. The biological process grouping represents what processes, from start to finish, the gene is a part of. Meanwhile, the molecular function grouping indicates various gene activities on a cellular level. Lastly, the cellular component grouping indicates where the gene may be located within the cell [1].
Together, this information provides researchers with a strong foundation of how a gene functions. Observed below is how the gene ontology database, or GO, was utilized to categorize PSEN1.
PsEN1 gene ontology
discussion
Illustrated above, PSEN1 is a very specific and important gene to humans and mammals alike. While there were more gene ontology results for each category, only the functions deemed important to the study of Alzheimer's were indicated. Together, this information provides insight that PSEN1 is involved in biological processes such as beta-amyloid formation and neurotransmission regulation, and has a gamma-secretase complex cellular component.
Knowing how APP and gamma-secretase are involved in developing Alzheimer's disease, the gene ontology present for PSEN1 further connects the information needed to perform genetic research. Likewise, the information above illustrates just how essential PSEN1 is to a human--necessary to keep our brains functioning properly.
Knowing how APP and gamma-secretase are involved in developing Alzheimer's disease, the gene ontology present for PSEN1 further connects the information needed to perform genetic research. Likewise, the information above illustrates just how essential PSEN1 is to a human--necessary to keep our brains functioning properly.
REFERENCES
[1] The Gene Ontology Consortium. "Gene ontology: tool for the unification of biology." Nature Genetics. May 2000; 25(1):25-9.