This web page was produced as an assignment for Genetics 677, an undergraduate course at UW-Madison.
MeCP2 Gene Ontology for Homo sapiens
The following results were obtained from AmiGO (1).
Biological Process
1. Negative regulation of transcription from RNA polymerase II promoter
This term suggests that MECP2 stops, prevents or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter.
Evidence: TAS (Traceable Author Statement: can be traced to a referenced article, though the original evidence is not directly shown)
The image is a graphical view of the term lineage.
Cellular Component
1. Mitochondrion
This term suggests that MECP2 localizes in mitochondria, the site of respiration in the cytoplasm of a cell.
Evidence: IDA (Inferred from Direct Assay: a direct assay, such as cell fractionation, immunofluorescence, or a physical interaction/binding assay, was used to determine localization in this component.)
2. Nucleolus
This term suggests that MECP2 localizes in the nucleolus, where the precursor subunits of the ribosome are created.
Evidence: IDA
3. Nucleus
This term suggests that MECP2 localizes in the nucleus, where the chromosomes are housed and replicated. The nucleus is also the site of RNA synthesis and processing.
Evidence: TAS
The following links have a graphical view of the term lineage.
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Molecular Function
1. DNA binding
This term suggests that MECP2 interacts with DNA.
Evidence: TAS
2. Double stranded methylated DNA binding
This term suggests that MECP2 interacts specifically with methylated DNA.
Evidence: IMP (Inferred from Mutant Phenotype: function, process or cellular localization of a gene product is inferred based on differences in the function, process, or cellular localization between two different alleles of the corresponding gene)
3. Protein binding
This term suggests that MECP2 interacts with a protein or protein complex.
Evidence: IPI (Inferred from Physical Interaction: physical interactions between the gene product of interest and another molecule)
4. Transcription corepressor activity
This term suggests that MECP2 is a transcription cofactor that represses transcription from a RNA polymerase II promoter. It also infers that MECP2 may not always directly bind to DNA itself.
Evidence: TAS
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MeCP2 Gene Ontology for Mus musculus
AmiGO also has 67 gene ontology term associations for the MECP2 gene in mice. Below, I put the term associations for biological process into broader categories, due to the large number of terms. A large majority of the terms in all three categories had IMP evidence.
Biological Process
Behavior |
Neurological Function and Development |
Cellular Component Cytoplasm |
Molecular Function DNA binding |
The gene ontology terms associated with human MECP2 reveal the basic processes and molecular functions in which the gene is involved and the cellular component in which it localizes. By also looking at the gene ontology terms associated with mouse MECP2, I was able to discover more specific biological processes that MECP2 is involved with. The mouse MECP2 gene ontology results show very specific biological processes that are specifically involved with behavior, epigenetics, and neuronal function and development. These results are consistent with the current research on the function of MECP2 in humans as well as phenotypes observed in patients with Rett Syndrome.
Phenotypes
Mouse
In one study, the Mecp2 gene was deleted in a certain type of neuronal cells in the hypothalamus. In these mice, several interesting phenotypes related to Rett Syndrome were observed. These phenotypes were an abnormal stress response, hyperphagia, and aggression. These phenotypes showed the importance of the role of mecp2 in the hypothalamus (2). The table to the left summarizes the behavioral assays in this study and the outcome in Mecp2 conditional knock out mice.
In an additional study, transgenic mice were created with Mecp2 that was unable to become phosphorylated at a specific site. These mice showed decreased locomoter activity and abnormal respiration (3).
These phenotypes are consistent with the gene ontology terms associated with Mecp2.
I was unable to find information about phenotypes associated with MECP2 in other homologs. This suggests that the mouse model is preferred for determining phenotypes but more studies may need to be done in other homologs to further determine the function of MECP2.
Resources
1. AmiGO
2. Fyffe, S. et al. (2008) Deletion of Mecp2 in SIM-1 expressing neurons reveals a critical role for Mecp2 in feeding behavior, aggression, and the response to stress. Neuron 59, 947-958.
3. Bissonette, J., Knopp, S. (2006) Separate respiratory phenotypes in methyl-CpG-binding protein 2 (Mecp2) deficient mice. Pediatric Respiration. 59 (4 Pt 1), 513-518.
Jessica Connor
[email protected]
Last Updated: 5/11/09