This web page was produced as an assignment for Genetics 564, an undergraduate course at UW-Madison
What is Gene Ontology?
Gene Ontology (GO) is a way to describe gene product properties based on Molecular Function, Biological Process, and Cellular Component (1). Molecular function is defined as the mechanisms that the gene product regulate on the molecular level. Biological process is the molecular events that are carried out in cells, tissues, organs or organisms. Lastly, cellular component is defined as the parts of the cell where the gene product is found.
Gene Ontology (GO) is a way to describe gene product properties based on Molecular Function, Biological Process, and Cellular Component (1). Molecular function is defined as the mechanisms that the gene product regulate on the molecular level. Biological process is the molecular events that are carried out in cells, tissues, organs or organisms. Lastly, cellular component is defined as the parts of the cell where the gene product is found.
Figure 1: Platelet shown in white
Figure 2: Structure of mature heart
Figure 3: Schematic representation of collagens interactions (shown in purple) with other proteins in the ECM
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Molecular Function
Extracellular matrix structural constituent Integrin binding Platelet-derived growth factor binding Metal Ion binding Biological Process Digestive tract development Heart development Wound healing Cerebral Cortex development Extracellular Matrix organization Skeletal system development Cellular Component Extracellular Matrix (ECM) |
Analysis
Data obtained from GO is consistent with many of the phenotypic consequences of EDS. Many of the biological processes that COL3A1 is involved in such as wound healing, heart development, and digestive tract development are shown to disfunction in individuals affected with EDS. On a molecular level it is clear that COL3A1 protein products function as a bridge between body part components through mechanisms including integrin binding, platelet-derived growth factor binding, and metal ion binding. Finally, as a component of the ECM, it is clear that defects in COL3A1 have systemic consequences.
References
1)"Ontology Documentation." Ontology Documentation. Web. 25 Mar. 2015. <http://geneontology.org/page/ontology-documentation>.
2) "Gene Ontology Consortium." Gene Ontology Consortium. N.p., n.d. Web. 25 Mar. 2015. <http://www.geneontology.org/>.
1)"Ontology Documentation." Ontology Documentation. Web. 25 Mar. 2015. <http://geneontology.org/page/ontology-documentation>.
2) "Gene Ontology Consortium." Gene Ontology Consortium. N.p., n.d. Web. 25 Mar. 2015. <http://www.geneontology.org/>.