Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.

ABSTRACT: The human N-acetyltransferase genes NAT1 and NAT2 encode two phase-II enzymes that metabolize various drugs and carcinogens. Functional variability at these genes has been associated with adverse drug reactions and cancer susceptibility. Mutations in NAT2 leading to the so-called slow-acetylation phenotype reach high frequencies worldwide, which questions the significance of altered acetylation in human adaptation. To investigate the role of population history and natural selection in shaping NATs variation, we characterized genetic diversity through the resequencing and genotyping of NAT1, NAT2, and the pseudogene NATP in a collection of 13 different populations with distinct ethnic backgrounds and demographic pasts. This combined study design allowed us to define a detailed map of linkag

SUBMITTER: Patin E 

PROVIDER: S-EPMC1380286 | biostudies-literature | 2006 Mar

REPOSITORIES: biostudies-literature