Introduction
Ontology is a way of describing concepts under a common theme and relating them to each other. Gene ontology (GO) organizes our understanding of biology and how genes relate to 3 aspects of biology. Molecular function and biological process help describe an understanding of processes while cellular component help describe cellular anatomy [2].
In biology many genes for the most fundamental and essential roles in keeping organisms alive are shared between species. GO helps organize how an understanding of a gene and its function in one species can apply to other species [1]. GO is intended to reflect the current understanding of biology and to be flexible so new discoveries and understandings can be incorporated [2].
Molecular Function: helps describe the specific chemistry a gene is involved in once translated.
Biological Process: helps describe the broader pathway the gene is involved in.
Cellular Component: helps describe where in the cell what the gene codes for is active and useful.
In biology many genes for the most fundamental and essential roles in keeping organisms alive are shared between species. GO helps organize how an understanding of a gene and its function in one species can apply to other species [1]. GO is intended to reflect the current understanding of biology and to be flexible so new discoveries and understandings can be incorporated [2].
Molecular Function: helps describe the specific chemistry a gene is involved in once translated.
Biological Process: helps describe the broader pathway the gene is involved in.
Cellular Component: helps describe where in the cell what the gene codes for is active and useful.
Results
This is an overview of the gene ontology of RAB27A.
Discussion
The RAB27A biological process sheds a lot of light on why the symptoms of Griscelli Syndrome (GS) are what they are. The partial albinism is the result of melanin being produced within the cell but not transported out due to loss of RAB27A function.
The clumps of pigment seen inside the hair follicle are clumps of melanin that were never transported out of the cell to give hair the usual color.
Similarly in lymphocytes, immune cells, to function properly the cell must be able to transport its lysosome to the outside of the cell to fight off infections. Immunodeficiency is a symptom of GS Type II because failure to export the lysosome leaves lymphocytes unable to defend the body from pathogens. |
References
[1]Ashburner, Michael, et al. “Gene Ontology: Tool for the Unification of Biology.” Nature Genetics, vol. 25, no. 1, 2000, pp. 25–29., doi:10.1038/75556.
[2]“Gene Ontology Overview.” Gene Ontology Resource, geneontology.org/docs/ontology-documentation/.
Image
Hair Follicle: https://ars.els-cdn.com/content/image/1-s2.0-S1110863015001093-gr2.jpg
[1]Ashburner, Michael, et al. “Gene Ontology: Tool for the Unification of Biology.” Nature Genetics, vol. 25, no. 1, 2000, pp. 25–29., doi:10.1038/75556.
[2]“Gene Ontology Overview.” Gene Ontology Resource, geneontology.org/docs/ontology-documentation/.
Image
Hair Follicle: https://ars.els-cdn.com/content/image/1-s2.0-S1110863015001093-gr2.jpg
The web page was produced as an assignment for Genetics 564, an undergraduate capstone course at UW-Madison