search

geneontology / go-ontology

Source ontology files for the Gene Ontology
http://geneontology.org/page/download-ontology
Creative Commons Attribution 4.0 International
215 stars 39 forks source link

Term merge: [translational fidelity terms] #21555

Open ValWood opened 3 years ago

ValWood commented 3 years ago

We have 2 terms for translational proof-reading (maintenance of translational fidelity)

GO:1990145 maintenance of translational fidelity GO:0006450 regulation of translational fidelity

These are not related in the ontology, and I don't know why we need the 'regulation' term. Could this merge into the maintenance term? It isn't a regulatory process, it is under "regulation of a biological quality", but what is the quality?

This seems to be analogous to DNA proofreading https://www.ebi.ac.uk/QuickGO/term/GO:0045004

https://www.nature.com/articles/nmicrobiol2017117

Suggest also add synonyms translational proof-reading (or would this be a better primary name?)

ValWood commented 3 years ago
Screenshot 2021-06-03 at 16 54 52
ValWood commented 1 year ago

Can we implement this to get rid of the "regulation term"? Or maybe we should obsolete the regulation term because a lot of the annotations appear to be phenotypes.

Isn't maintenance of fidelity is more for processes which ensure that the codon is read/interpreted correctly, not for general translational phenotypes like this?

GO:0045903 positive regulation of translational fidelity IBA with S000000827 , PTN000562153 Gaudet P et al. (2011) 4

https://www.yeastgenome.org/locus/S000000827/go

https://www.yeastgenome.org/reference/S000151443 Together with GTP and initiator methionyl-tRNA, translation initiation factor eIF2 forms a ternary complex that binds the 40S ribosome and then scans an mRNA to select the AUG start codon for protein synthesis. Here, we show that a human X-chromosomal neurological disorder characterized by intellectual disability and microcephaly is caused by a missense mutation in eIF2γ (encoded by EIF2S3), the core subunit of the heterotrimeric eIF2 complex. Biochemical studies of human cells overexpressing the eIF2γ mutant and of yeast eIF2γ with the analogous mutation revealed a defect in binding the eIF2β subunit to eIF2γ. Consistent with this loss of eIF2 integrity, the yeast eIF2γ mutation impaired translation start codon selection and eIF2 function in vivo in a manner that was suppressed by overexpressing eIF2β. These findings directly link intellectual disability to impaired translation initiation, and provide a mechanistic basis for the human disease due to partial loss of eIF2 function.

ValWood commented 1 year ago

Could we look at this tomorrow?

ValWood commented 1 year ago

fix would also close: https://github.com/geneontology/go-ontology/issues/23843