The structure and characteristics of a fourth allele of polymorphic N-acetyltransferase gene found in the Japanese population

Biochem Biophys Res Commun. 1993 Mar 31;191(3):811-6. doi: 10.1006/bbrc.1993.1289.


Polymorphic N-acetyltransferase (NAT2), which exists in the human liver and metabolizes a wide spectrum of arylamine, is encoded by one gene (NAT2). We have identified the mutations of a fourth NAT2 allele (allele 4) which we previously found in the Japanese population. Compared with allele 1, which expresses a high enzyme activity, allele 4 has 3 nucleotide differences. 2 are missense mutations at nucleotide position (nt) 341 and 803. The other is a silent mutation at the KpnI site. From the result of expression studies of chimeric gene constructs between allele 1 and allele 4 in Chinese hamster ovary cells, nt 341 missense mutation of the allele 4 which causes the Ile-114 to Thr change is responsible for the low enzyme activity of NAT2 protein.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Arylamine N-Acetyltransferase / genetics*
  • Arylamine N-Acetyltransferase / metabolism
  • Base Sequence
  • Blotting, Western
  • Gene Expression
  • Humans
  • Japan / ethnology
  • Molecular Sequence Data
  • Oligodeoxyribonucleotides / chemistry
  • Pedigree
  • RNA, Messenger / genetics
  • Recombinant Fusion Proteins / metabolism
  • Structure-Activity Relationship


  • Oligodeoxyribonucleotides
  • RNA, Messenger
  • Recombinant Fusion Proteins
  • Arylamine N-Acetyltransferase