Gene Ontology
Introduction
An ontology is a way of organizing forms of knowledge into meaningful relationships [2]. The Gene Ontology Resource (GO) contains genomic sequences, biological function information, and molecular annotations from many different genes across many species. GO's purpose is to characterize and better understand gene function, in order to aid in scientific research [1]. Within the overarching GO project, there are three subdivided ontologies focused on identifying a gene product's 1) molecular function, 2) cellular component, and 3) biological process [3].
Molecular function: Actions that a gene product completes on the molecular level
Cellular component: Location within the cell in which the gene product performs its function
Biological process: Larger process that the gene product functions within
Molecular function: Actions that a gene product completes on the molecular level
Cellular component: Location within the cell in which the gene product performs its function
Biological process: Larger process that the gene product functions within
Results
Discussion
Based on the GO terms associated with ROBO3, it is supported that ROBO3 is involved within the pathway of axon guidance and is expressed within axons. This relates to the original hypothesis that a mutation in ROBO3 could result in errant axon network development, leading to the overlap of sensory axons. This could then cause the symptoms of synesthesia. An interesting find was that ROBO3 is involved in "homophilic cell adhesion via plasma membrane adhesion molecules." I believe this might be related to the way that the axons develop and connect, but it requires further exploration.
References
- "About The GO". Gene Ontology Resource, 2020, http://geneontology.org/docs/introduction-to-go-resource/
- Ashburner, M., Ball, C., Blake, J. et al. Gene Ontology: tool for the unification of biology. Nat Genet 25, 25–29 (2000). https://doi.org/10.1038/75556
- "Gene Ontology Overview". Gene Ontology Resource, 2020, http://geneontology.org/docs/ontology-documentation/.
- Ontologies: Scientific Data Sharing Made Easy.Nicole Washington & Suzanna Lewis (2008)https://www.nature.com/scitable/topicpage/ontologies-scientific-data-sharing-made-easy-77972/