Fakis G, Boukouvala S, Buckle V, Payton M, Denning C, Sim E
Department of Pharmacology, University of Oxford, Oxford, UK.
Cytogenet Cell Genet. 2000;90(1-2):134-8. doi: 10.1159/000015648.
Arylamine N-acetyltransferases (NATs) catalyse acetylation reactions which can result in either detoxification or activation of arylamine carcinogens. The human NAT loci (NAT1, NAT2, and a pseudogene, NATP) have been mapped to human chromosome 8p22, a region frequently deleted in tumours. There are three functional genes in mice (Nat1, Nat2, and Nat3) encoding for three NAT isoenzymes. Different alleles at the Nat2 locus are responsible for the acetylation polymorphism identified in different mouse strains. We show that Nat3 is close to Nat1 and Nat2, by screening of a P1 artificial chromosome (PAC) library and provide cytogenetic evidence for co-localisation of the three genes in chromosome region 8 B3.1-B3.3. The Nat region of mouse and human is homologous. We also provide sequence information and a restriction map in the vicinity of Nat1 and Nat2 and describe a noncoding exon located 6 kb upstream of the Nat2 coding region.
芳胺N - 乙酰基转移酶(NATs)催化乙酰化反应,该反应可能导致芳胺致癌物的解毒或活化。人类NAT基因座(NAT1、NAT2和一个假基因NATP)已被定位到人类8号染色体p22区域,该区域在肿瘤中经常缺失。小鼠中有三个功能基因(Nat1、Nat2和Nat3)编码三种NAT同工酶。Nat2基因座的不同等位基因导致了在不同小鼠品系中鉴定出的乙酰化多态性。通过筛选P1人工染色体(PAC)文库,我们发现Nat3与Nat1和Nat2相邻,并提供了这三个基因在染色体区域8 B3.1 - B3.3中共定位的细胞遗传学证据。小鼠和人类的Nat区域是同源的。我们还提供了Nat1和Nat2附近的序列信息和限制性酶切图谱,并描述了位于Nat2编码区上游6 kb处的一个非编码外显子。