Introduction
The Gene Ontology (GO) project was created in order to standardize the vocabulary used by scientists to discuss genes and gene product attributes. [1] The current mission statement of the GO Consortium reads as follows: "to develop an up-to-date, comprehensive, computational model of biological systems, from the molecular level to larger pathways, cellular and organism-level systems." [2]
There are currently 3 categories of interest in regards to GO: molecular function, biological process, and cellular component. The category of molecular function describes the small-scale, molecular activities of the gene product. Some examples of molecular function include words such as "transport" or "catalysis." Meanwhile, the category of biological process refers to the large-scale "end goal" of the specified molecular function. Finally, the category of cellular component describes where the molecular function and biological process occurs. [2]
There are currently 3 categories of interest in regards to GO: molecular function, biological process, and cellular component. The category of molecular function describes the small-scale, molecular activities of the gene product. Some examples of molecular function include words such as "transport" or "catalysis." Meanwhile, the category of biological process refers to the large-scale "end goal" of the specified molecular function. Finally, the category of cellular component describes where the molecular function and biological process occurs. [2]
Results
Discussion
The GO terms for NOG show that the NOG gene product regulates bone formation pathways. This is intuitive, as NOG-SSD is usually caused by mutations that inhibit noggin function. This, in turn, would reduce the effectiveness of the negative regulation of BMPs, causing the errors in bone formation that are common to NOG-SSD. However, it is unclear as of yet why there is such a wide variety of phenotypes observed under the category of NOG-SSD.
References
[1] Gene Ontology Consortium. The Gene Ontology project in 2008. Nucleic Acids Res. 2008 Jan;36(Database issue):D440-4. doi: 10.1093/nar/gkm883. Epub 2007 Nov 4. PMID: 17984083; PMCID: PMC2238979.
[2] https://geneontology.org/docs/ontology-documentation/
[2] https://geneontology.org/docs/ontology-documentation/