Proteomic and genomic characterization of a yeast model for Ogden syndrome.

{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:27668839", "kind": "science-record", "revision": 7, "content_hash": "sha256:0ea734d8ac2a6663a626318ded51a111da40b0613cbaa120180ec08fddf3e28b", "created_at": "2026-11-01T15:40:20Z", "updated_at": "2026-11-01T21:59:09Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "Proteomic and genomic characterization of a yeast model for Ogden syndrome.", "doi": "10.1002/yea.3211", "pmid": "27668839", "authors": ["Max J Dörfel", "Han Fang", "Jonathan Crain", "Michael Klingener", "Jake Weiser", "Gholson J Lyon"], "journal": "Yeast (Chichester, England)", "year": 2017, "abstract": "Naa10 is an Nα -terminal acetyltransferase that, in a complex with its auxiliary subunit Naa15, co-translationally acetylates the α-amino group of newly synthetized proteins as they emerge from the ribosome. Roughly 40-50% of the human proteome is acetylated by Naa10, rendering this an enzyme one of the most broad substrate ranges known. Recently, we reported an X-linked disorder of infancy, Ogden syndrome, in two families harbouring a c.109 T > C (p.Ser37Pro) variant in NAA10. In the present study we performed in-depth characterization of a yeast model of Ogden syndrome. Stress tests and proteomic analyses suggest that the S37P mutation disrupts Naa10 function and reduces cellular fitness during heat shock, possibly owing to dysregulation of chaperone expression and accumulation. Microarray and RNA-seq revealed a pseudo-diploid gene expression profile in ΔNaa10 cells, probably responsible for a mating defect. In conclusion, the data presented here further support the disruptive nature of the S37P/Ogden mutation and identify affected cellular processes potentially contributing to the severe phenotype seen in Ogden syndrome. Data are available via GEO under identifier GSE86482 or with ProteomeXchange under identifier PXD004923. © 2016 The Authors. Yeast published by John Wiley & Sons, Ltd.", "claims": [{"id": "claim-method", "statement": "statistical analyses were performed using Student's t‐test.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:27668839", "locator": "sections[13] \"The S37P mutation renders Naa10 functionally impaired\" paragraph 3", "quote": "statistical analyses were performed using Student's t‐test."}], "state": "complete"}, {"id": "claim-data-access", "statement": "The microarray and RNAseq data was deposited in GEO under accession number GSE86482. 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For the registered target, RNA-seq differential-expression analysis used DESeq2; the microarray and RNA-seq data are available through GEO under GSE86482, and the mass-spectrometry data through ProteomeXchange under PXD004923.", "kind": "qualitative", "target": null, "evidence": [{"asset": "source:pmid:27668839", "locator": "sections[0] \"Abstract\" paragraph 1", "quote": "Stress tests and proteomic analyses suggest that the S37P mutation disrupts Naa10 function and reduces cellular fitness during heat shock, possibly owing to dysregulation of chaperone expression and accumulation."}, {"asset": "source:pmid:27668839", "locator": "sections[0] \"Abstract\" paragraph 1", "quote": "Data are available via GEO under identifier GSE86482 or with ProteomeXchange under identifier PXD004923."}], "state": "complete"}], "gaps": []}, "experiment": {"state": "partial", "objective": "The S37P mutation disrupts Naa10 function and reduces cellular fitness during heat shock, possibly because of dysregulated chaperone expression and accumulation. 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