Identification of a novel allele at the human NAT1 acetyltransferase locus

Biochem Biophys Res Commun. 1997 Apr 28;233(3):584-91. doi: 10.1006/bbrc.1997.6501.

Abstract

Humans possess two N-acetyltransferase isozymes (NAT1 and NAT2). We cloned and sequenced a novel NAT1 allele (Genbank HSU 80835) that contained nucleotide substitutions at -344 (C-->T), -40 (A-->T), 445 [G-->A(Val-->Ile)], 459 [G-->A(silent)], 640 [T-->G(Ser-->Ala)], a 9 base pair deletion between nucleotides 1065 and 1090, and 1095 (C-->A). The novel NAT1 allele which we have designated NAT1*17 is similar to NAT1*11 except for a G445A substitution (Val149-->Ile) in the NAT1 coding region. The G445A (Val149-->Ile) substitution yielded no significant changes in levels of immunoreactivity, as detected by Western blot, nor in intrinsic stability of the recombinant N-acetyltransferase protein. However, the G445A (Val149-->Ile) substitution yielded expression of recombinant NAT1 protein that catalyzed the N-acetylation of aromatic amines and the O- and N,O-acetylation of their N-hydroxylated metabolites at rates up to 2-fold higher than wild-type recombinant human NAT1.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acetylation
  • Alleles*
  • Amino Acid Sequence
  • Arylamine N-Acetyltransferase / genetics*
  • Arylamine N-Acetyltransferase / immunology
  • Arylamine N-Acetyltransferase / metabolism
  • Base Sequence
  • Binding Sites / genetics
  • Chimera / genetics
  • Cloning, Molecular
  • DNA Primers / genetics
  • Enzyme Stability
  • Genetic Engineering
  • Humans
  • Isoenzymes / genetics*
  • Isoenzymes / immunology
  • Isoenzymes / metabolism
  • Kinetics
  • Male
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Recombinant Proteins / genetics
  • Recombinant Proteins / immunology
  • Recombinant Proteins / metabolism

Substances

  • DNA Primers
  • Isoenzymes
  • Recombinant Proteins
  • Arylamine N-Acetyltransferase
  • N-acetyltransferase 1

Associated data

  • GENBANK/U80835