Molecular cloning of the human gene encoding lanosterol synthase from a liver cDNA library

Biochem Biophys Res Commun. 1995 Aug 4;213(1):154-60. doi: 10.1006/bbrc.1995.2110.

Abstract

Lanosterol synthase [(S)-2,3-epoxysqualene mutase (cyclizing, lanosterol forming), EC 5.4.99.7] catalyzes the cyclization of (S)-2,3-oxidosqualene to lanosterol in the reaction that forms the sterol nucleus. We report herein the cloning and characterization of the human gene (OSC) encoding lanosterol synthase, a predicted 83 kDa protein of 732 amino acids. The deduced amino acid sequence is 36-40% identical to known yeast and plant homologues and 83% identical to Rattus norvegicus lanosterol synthase. The new gene was shown to encode lanosterol synthase. The yeast lanosterol synthase deficient mutant SMY8 was complemented by the human gene, and a cell-free homogenate of SMY8 expressing the human gene was shown to convert 2,3-oxidosqualene to lanosterol.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Arabidopsis / enzymology
  • Base Sequence
  • Cloning, Molecular
  • DNA, Complementary
  • Escherichia coli
  • Gene Library
  • Hominidae / genetics*
  • Humans
  • Intramolecular Transferases*
  • Isomerases / genetics*
  • Liver / enzymology*
  • Molecular Sequence Data
  • Open Reading Frames
  • Rats
  • Restriction Mapping
  • Saccharomyces cerevisiae / enzymology
  • Sequence Homology, Amino Acid

Substances

  • DNA, Complementary
  • Isomerases
  • Intramolecular Transferases
  • lanosterol synthase

Associated data

  • GENBANK/U22526