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dc.contributor.authorM. Silva, Laraen_US
dc.contributor.authorS. Carvalho, Anaen_US
dc.contributor.authorGuillon, Patriceen_US
dc.contributor.authorSeixas, Susanaen_US
dc.contributor.authorAzevedo, Mariaen_US
dc.contributor.authorAlmeida, Raquelen_US
dc.contributor.authorRuvoën-Clouet, Nathalieen_US
dc.contributor.authorA. Reis, Celsoen_US
dc.contributor.authorPendu, Jacquesen_US
dc.contributor.authorRocha, Jorgeen_US
dc.contributor.authorDavid, Leonoren_US
dc.date.accessioned2017-05-03T15:36:33Z
dc.date.available2017-05-03T15:36:33Z
dc.date.issued2010en_US
dc.date.modified2010-09-16T08:19:55Z
dc.identifier.issn02820080en_US
dc.identifier.doi10.1007/s10719-009-9255-8en_AU
dc.identifier.urihttp://hdl.handle.net/10072/34043
dc.description.abstractThe secretor (Se)/nonsecretor (se) histo-blood group variation depends on the action of the FUT2 enzyme and has major implications for human susceptibility to infections. To characterize the functionality of FUT2 variants, we assessed the correlation between saliva phenotypes and sequence variation at the FUT2 gene in sixty seven individuals from northern Portugal. While most non-secretor haplotypes were found to carry the 428G > A nonsense mutation in association with a 739G > A missense substitution, we have also identified a recombinant haplotype carrying the 739*A allele together with the efficient 428*G variant in individuals with the Se phenotype. This finding suggested, in contrast to previous results, that the 739*A allele encodes an efficient Se allele. To test this hypothesis we evaluated the in vivo enzyme activity of full coding expression constructs in transient transfection of CHO-K1 cells using FACS (fluorescence-activated cell sorting) analysis and expression of type 2 and type 3 chain H structures as read out. We detected FUT2 activity for the 739*A expression construct, demonstrating that the 739G > A substitution is indeed not inactivating. In accordance with the hypothesis that FUT2 is under long standing balancing selection, we estimated that the time depth of FUT2 global genetic variation is as old as 3 million years. Age estimates of specific variants suggest that the 428G > A mutation occurred at least 1.87 million years ago while the 739G > A substitution is about 816,000 years old. The 385A > T missense mutation underlying the non-secretor phenotype in East Asians appears to be more recent and is likely to have occurred about 256,000 years ago.en_US
dc.description.peerreviewedYesen_US
dc.description.publicationstatusYesen_AU
dc.languageEnglishen_US
dc.language.isoen_AU
dc.publisherSpringeren_US
dc.publisher.placeUnited Statesen_US
dc.relation.ispartofstudentpublicationNen_AU
dc.relation.ispartofpagefrom61en_US
dc.relation.ispartofpageto68en_US
dc.relation.ispartofissue1en_US
dc.relation.ispartofjournalGlycoconjugate Journalen_US
dc.relation.ispartofvolume27en_US
dc.rights.retentionYen_AU
dc.subject.fieldofresearchImmunogenetics (incl. Genetic Immunology)en_US
dc.subject.fieldofresearchHost-Parasite Interactionsen_US
dc.subject.fieldofresearchVirologyen_US
dc.subject.fieldofresearchcode110706en_US
dc.subject.fieldofresearchcode060307en_US
dc.subject.fieldofresearchcode060506en_US
dc.titleInfection-associated FUT2 (Fucosyltransferase 2) genetic variation and impact on functionality assessed by in vivo studiesen_US
dc.typeJournal articleen_US
dc.type.descriptionC1 - Peer Reviewed (HERDC)en_US
dc.type.codeC - Journal Articlesen_US
gro.date.issued2010
gro.hasfulltextNo Full Text


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