A yeast assay for functional detection of mutations in the human cystathionine β-synthase gene

Warren D. Kruger, David R. Cox

Research output: Contribution to journalArticlepeer-review

46 Scopus citations

Abstract

Mutations in the human cystathionine β-synthase (CBS) gene are known to cause homocystinuria and may also be a significant risk factor for premature atherosclerosis. We have previously shown that the human CBS protein can substitute for the endogenous yeast CBS protein in Saccharomyces cerevisiae. We now show that expression of three different CBS mutants known to be associated with reduced enzyme activity in humans fail to complement growth in the yeast assay. in addition, we have used the yeast CBS assay to identity eight mutant CBS alleles in cell lines from patients with CBS deficiency. These mutant alleles include two previously identified and five novel CBS mutations. Our results also demonstrate that the yeast CBS assay can detect a large percentage of individuals heterozygous for mutations in CBS. This system should be useful in determining the relationship between CBS mutations and human disease. / 1995 Oxford University Press.

Original languageEnglish
Pages (from-to)1155-1161
Number of pages7
JournalHuman Molecular Genetics
Volume4
Issue number7
DOIs
StatePublished - Jul 1995

Keywords

  • Alleles
  • Base Sequence
  • Cells, Cultured
  • Cystathionine beta-Synthase/biosynthesis
  • DNA Mutational Analysis
  • Female
  • Homocystinuria/genetics
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation
  • Polymerase Chain Reaction/methods
  • Saccharomyces cerevisiae/genetics

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