This web page was produced as an assignment for Genetics 564, an undergraduate capstone course at UW-Madison
What is Gene Ontology?
Gene Ontology standardizes gene function terminology across molecular research to help understand developmental processes. Because molecular biology is a growing field and technology is advancing to allow larger scale studies, consolidation of terms is needed to be able to easily compare all the research findings. Gene Ontology (GO) is one database that does this, and its three ontologies it focuses on are: Molecular Function, Biological Processes, and Cellular Component. [1]
Molecular Function
Biological Process
Biological Process ontology characterizes the proteins biological role in an organism. For example, protein kinases overall objective is to phosphorylate histones. [1]
MITF’s biological processes include melanocyte differentiation, regulation of transcription (both activating and repressing), protein assembly, call apoptosis, and cell migration. [2] For MITF’s role in Waardenburg Syndrome 2A, melanocyte differentiation is the most important biological process. |
Cellular Component
Cellular Component ontology characterizes where the molecular function of the protein is being carried out inside the cell. [1]
MITF’s cellular components are the nucleoplasm, nucleus, and protein complex [2]. This is important as it must be in the nucleoplasm to perform its biological process of melanocyte differentiation by activating transcription factors. |
Analysis
The gene ontology of MITF is well defined. MITF is needed to promote melanocyte differentiation and to do this it is required to localize in the nucleoplasm so it can activate the tyrosinase promoter. With this understanding, it is clear why WS2A patients that have a mutation in MITF show abnormalities in their skin, eyes, and hair.
References
1. Hill, D. P., Berardini, T. Z., Howe, D. G., & Auken, K. M. (2009). Representing ontogeny through ontology: A developmental biologist's guide to the gene ontology. Molecular Reproduction and Development. doi:10.1002/mrd.21130
2. European Bioinformatics InstituteProtein Information ResourceSIB Swiss Institute of Bioinformatics. (2017, February 15). Microphthalmia-associated transcription factor. Retrieved March 08, 2017, from http://www.uniprot.org/uniprot/O75030
Images
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1. Hill, D. P., Berardini, T. Z., Howe, D. G., & Auken, K. M. (2009). Representing ontogeny through ontology: A developmental biologist's guide to the gene ontology. Molecular Reproduction and Development. doi:10.1002/mrd.21130
2. European Bioinformatics InstituteProtein Information ResourceSIB Swiss Institute of Bioinformatics. (2017, February 15). Microphthalmia-associated transcription factor. Retrieved March 08, 2017, from http://www.uniprot.org/uniprot/O75030
Images
Banner: http://www.africapublic.com/girl-with-ocean-eyes/