Functional effects of genetic polymorphisms in the N-acetyltransferase 1 coding and 3' untranslated regions.

ABSTRACT:

Background

The functional effects of N-acetyltransferase 1 (NAT1) polymorphisms and haplotypes are poorly understood, compromising the validity of associations reported with diseases, including birth defects and numerous cancers.

Methods

We investigated the effects of genetic polymorphisms within the NAT1 coding region and the 3'-untranslated region (3'-UTR) and their associated haplotypes on N- and O-acetyltransferase catalytic activities, and NAT1 mRNA and protein levels following recombinant expression in COS-1 cells.

Results

1088T>A (rs1057126; 3'-UTR) and 1095C>A (rs15561; 3'-UTR) each slightly reduced NAT1 catalytic activity and NAT1 mRNA and protein levels. A 9-bp (TAATAATAA) deletion between nucleotides 1065 and 1090 (3'-UTR) reduced NAT1 catalytic activity an

SUBMITTER: Zhu Y 

PROVIDER: S-EPMC3252750 | biostudies-literature | 2011 Feb

REPOSITORIES: biostudies-literature