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

@article{Kruger1995AYA,
  title={A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.},
  author={Warren D Kruger and David R. Cox},
  journal={Human molecular genetics},
  year={1995},
  volume={4 7},
  pages={1155-61}
}
Mutations in the human cystathionine beta-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… CONTINUE READING

From This Paper

Topics from this paper.
20 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 20 extracted citations

Similar Papers

Loading similar papers…