{{Rsnum
|rsid=28359483
|Chromosome=8
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=NAT1
|position=18210188
|Gene_s=NAT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.0 | 0.0 | 0.0
| HCB | 0.0 | 0.0 | 0.0
| JPT | 0.0 | 0.0 | 0.0
| YRI | 0.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 1.7 | 98.3
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}Functional Analysis of the Human N-Acetyltransferase 1 Major Promoter: Quantitation of Tissue Expression and Identification of Critical Sequence Elements
Anwar Husain, Xiaoyan Zhang, Mark A. Doll, J. Christopher States, David F. Barker and David W. Hein

Arylamine N-acetyltransferase 1 (NAT1) plays an important role in the biotransformation of xenobiotics, and genetic variants have been implicated in susceptibility to cancer and birth defects.

The human N-acetyltransferase 1 (NAT1) and 2 (NAT2) genes encode N-acetyltransferase enzymes important in the biotransformation of xenobiotics, including pharmaceuticals and environmental carcinogens. Polymorphisms within and near the single open reading frame exon of NAT1 define more than 25 distinct haplotypes (Hein et al., 2000). Associations of NAT1 polymorphisms with susceptibility to various cancers (Hein et al., 2000; Boukouvala and Fakis, 2005) and birth defects (Carmichael et al., 2006; Jensen et al., 2006) have been described; however, the effects of the common NAT1 polymorphisms on enzyme activity have not been well established and their reported associations with cancer or birth defects are inconsistent. The apparent conflicts in epidemiological studies may be due, in part, to incomplete understanding of the effects of uncharacterized genetic and environmental influences on NAT1 transcription regulation.

Numerous studies have documented interindividual differences in NAT1 protein or enzyme activity in diverse human tissues including erythrocytes (Bruhn et al., 1999), intestine (Hickman et al., 1998), colon (Ilett et al., 1994), skin (Kawakubo et al., 2000), breast (Williams et al., 2001), placenta (Upton et al., 2000), and prostate (Al-Buheissi et al., 2006) with no known genetic basis. Although the NAT1 alleles NAT1*14B, *15, *17,*19, and *22 are known to encode proteins with low enzyme activity (Fretland et al., 2001), these forms are rare in humans and variable activity has also been reported for individuals homozygous or heterozygous for the most frequent NAT1*4 and *10 alleles. Some of the observed variability is likely due to post-translational effects caused by intracellular redox or metabolic status (Butcher et al., 2000, 2004; Rodrigues-Lima and Dupret, 2004), but the influence of NAT1 transcriptional regulation has not yet been determined.

Transcription of NAT1 occurs in a wide variety of tissues and cell lines and most mRNAs are initiated at NATb (Husain et al., 2004; Boukouvala and Fakis, 2005; Butcher et al., 2005). The alternative promoter, NATa, is most highly expressed in a few tissues, including kidney, liver, lung, and trachea (Barker et al., 2006). 

Further understanding of the increased NAT1 expression in breast tumors is of interest because of the role of NAT1 in biotransforming environmental carcinogens and the observed association of higher NAT1 expression with better patient survival (Bieche et al., 2004; Dolled-Filhart et al., 2006). 

http://dmd.aspetjournals.org/content/35/9/1649.full
--LaurieL 12:25, 29 March 2012 (UTC)

{{PMID Auto
|PMID=17591675
|Title=Functional analysis of the human N-acetyltransferase 1 major promoter: quantitation of tissue expression and identification of critical sequence elements.
|OA=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}