Characterization of genetic variation and natural selection at the arylamine N-acetyltransferase genes in global human populations

dc.FacultyEndemic Diseasesen_US
dc.contributor.authorMortensen, Holly M.
dc.contributor.authorIbrahim, Muntaser E.
dc.contributor.authorFroment, Alain
dc.contributor.authorLema, Godfrey
dc.contributor.editoren_US
dc.contributor.otherMolecular Biologyen_US
dc.date2011-11
dc.date.accessioned2015-11-12T12:03:08Z
dc.date.available2015-11-12T12:03:08Z
dc.date.issued2015-11-12
dc.date.submitted2015
dc.description.abstractFunctional variability at the arylamine N-acetyltransferase genes is associated with drug response in humans and may have been adaptive in the past owing to selection pressure from diet and exposure to toxins during human evolution. Aims: We have characterized nucleotide variation at the NAT1 and NAT2 genes, and at the NATP1 pseudogene in global human populations, including many previously underrepresented African populations, in order to identify potential functional variants and to understand the role that natural selection has played in shaping variation at these loci in globally diverse populations. Materials & methods: We have resequenced approximately 2800 bp for each of the NAT1 and NAT2 gene regions, as well as the pseudogene NATP1, in 197 African and 132 nonAfrican individuals. Results & conclusion: We observe a signature of balancing selection maintaining variation in the 3’-UTR of NAT1, suggesting that these variants may play a functional role that is currently undefined. In addition, we observed high levels of nonsynonymous functional variation at the NAT2 locus that differs amongst ethnically diverse populations.en_US
dc.identifier.urihttp://khartoumspace.uofk.edu/123456789/17049
dc.language.isoenen_US
dc.publisherUOFKen_US
dc.subjectAfricaen_US
dc.subjectarylamine N-acetyltransferaseen_US
dc.subjectdrug-metabolizing enzyme locien_US
dc.subjectnatural selectionen_US
dc.subjectxenobiotic-metabolizing locien_US
dc.titleCharacterization of genetic variation and natural selection at the arylamine N-acetyltransferase genes in global human populationsen_US
dc.typePublicationen_US

Files