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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Characterization of genetic variation and natural selection at the arylamine N-acetyltransferase genes in global human populations
Pharmacogenomics, Volume 12, No. 11, Year 2011
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Description
Functional 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 under-represented 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. Original submitted 13 April 2011; Revision submitted 28 June 201. © 2011 Future Medicine Ltd.
Authors & Co-Authors
Mortensen, Holly
United States, College Park
University of Maryland, College Park
United States, Research Triangle Park
Us Epa National Health and Environmental Effects Research Laboratory
Froment, Alain
France, Marseille
Ird Institut de Recherche Pour le Developpement
Lema, Godfrey
Tanzania, Dar es Salaam
Muhimbili University of Health and Allied Sciences
Bodo, Jean Marie
Cameroon, Yaounde
Ministre de la Recherche Scientifique et de Linnovation
Ibrahim, Muntaser Eltayeb
Sudan, Khartoum
Khartoum University
Nyambo, Thomas B.
Tanzania, Dar es Salaam
Muhimbili University of Health and Allied Sciences
Omar, Sabah Ahmed
Kenya, Nairobi
Kenya Medical Research Institute
Tishkoff, Sarah A.
United States, College Park
University of Maryland, College Park
United States, Philadelphia
University of Pennsylvania
Statistics
Citations: 40
Authors: 8
Affiliations: 8
Identifiers
Doi:
10.2217/pgs.11.88
ISSN:
14622416
e-ISSN:
17448042
Research Areas
Genetics And Genomics
Health System And Policy