Conservation of a Chromosome 8 Inversion and Exon Mutations Confirm Common Gulonolactone Oxidase Gene Evolution Among Primates, Including H. Neanderthalensis

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dc.contributor.authorMansueto, Alexanderen
dc.contributor.authorGood, Deborah J.en
dc.date.accessioned2025-01-02T19:33:05Zen
dc.date.available2025-01-02T19:33:05Zen
dc.date.issued2024-04-29en
dc.description.abstractAscorbic acid functions as an antioxidant and facilitates other biochemical processes such as collagen triple helix formation, and iron uptake by cells. Animals which endogenously produce ascorbic acid have a functional gulonolactone oxidase gene (GULO); however, humans have a GULO pseudogene (GULOP) and depend on dietary ascorbic acid. In this study, the conservation of GULOP sequences in the primate haplorhini suborder were investigated and compared to the GULO sequences belonging to the primates strepsirrhini suborder. Phylogenetic analysis suggested that the conserved GULOP exons in the haplorhini primates experienced a high rate of mutations following the haplorhini/strepsirrhini divergence. This high mutation rate has decreased during the evolution of the haplorhini primates. Additionally, indels of the haplorhini GULOP sequences were conserved across the suborder. A separate analysis for GULO sequences and well-conserved GULOP sequences focusing on placental mammals identified an in-frame GULO sequence in the Brazilian guinea pig, and a potential GULOP sequence in the pika. Similar to haplorhini primates, the guinea pig and lagomorph species have experienced a high substitution rate when compared to the mammals used in this study. A shared synteny to examine the conservation of local genes near GULO/GULOP identified a conserved inversion around the GULO/GULOP locus between the haplorhini and strepsirrhini primates. Fischer’s exact test did not support an association between GULOP and the chromosomal inversion. Mauve alignment showed that the inversion of the length of the syntenic block that the GULO/GULOP genes belonged to was variable. However, there were frequent rearrangements around ~ 2 million base pairs adjacent to GULOP involving the KIF13B and MSRA genes. These data may suggest that genes acquiring deleterious mutations in the coding sequence may respond to these deleterious mutations with rapid substitution rates.en
dc.description.versionPublished versionen
dc.format.extentPages 266-277en
dc.format.extent12 page(s)en
dc.format.mimetypeapplication/pdfen
dc.identifier.doihttps://doi.org/10.1007/s00239-024-10165-0en
dc.identifier.eissn1432-1432en
dc.identifier.issn0022-2844en
dc.identifier.issue3en
dc.identifier.orcidGood, Deborah [0000-0003-0136-0975] [0000-0003-2471-5775]en
dc.identifier.other10.1007/s00239-024-10165-0 (PII)en
dc.identifier.pmid38683367en
dc.identifier.urihttps://hdl.handle.net/10919/123876en
dc.identifier.volume92en
dc.language.isoenen
dc.publisherSpringeren
dc.relation.urihttps://www.ncbi.nlm.nih.gov/pubmed/38683367en
dc.rightsCreative Commons Attribution 4.0 Internationalen
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/en
dc.subjectAscorbic aciden
dc.subjectVitamin Cen
dc.subjectGULOen
dc.subjectGULOPen
dc.subjectNeanderthalen
dc.subjectPrimatesen
dc.subjectPhylogenyen
dc.subject.meshAnimalsen
dc.subject.meshPrimatesen
dc.subject.meshHumansen
dc.subject.meshEvolution, Molecularen
dc.subject.meshPhylogenyen
dc.subject.meshConserved Sequenceen
dc.subject.meshMutationen
dc.subject.meshPseudogenesen
dc.subject.meshExonsen
dc.subject.meshL-Gulonolactone Oxidaseen
dc.subject.meshChromosome Inversionen
dc.titleConservation of a Chromosome 8 Inversion and Exon Mutations Confirm Common Gulonolactone Oxidase Gene Evolution Among Primates, Including H. Neanderthalensisen
dc.title.serialJournal of Molecular Evolutionen
dc.typeArticle - Refereeden
dc.type.dcmitypeTexten
dc.type.otherArticleen
dcterms.dateAccepted2024-03-20en
pubs.organisational-groupVirginia Techen
pubs.organisational-groupVirginia Tech/Agriculture & Life Sciencesen
pubs.organisational-groupVirginia Tech/Agriculture & Life Sciences/Human Nutrition, Foods, & Exerciseen
pubs.organisational-groupVirginia Tech/Faculty of Health Sciencesen
pubs.organisational-groupVirginia Tech/All T&R Facultyen
pubs.organisational-groupVirginia Tech/Agriculture & Life Sciences/CALS T&R Facultyen

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