section24

section24 - MIT Department of Biology 7.014 Introductory...

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MIT Department of Biology 7.014 Introductory Biology, Spring 2005 Recitation Section 24 May 11-12, 2005 Designing Yeast Assays for Human Disease A. Determining severity of disease phenotype We are again working with the human gene CBS and its yeast analog cys4. Recall that these genes each encode the protein cystathionine β -synthase that is responsible for converting homocysteine into cystathionine in the cellular pathway of creating cysteine. Human disease homocysteinurea results from CBS enzyme deficiency. Human cells deficient in CBS enzyme accumulate homocysteine—a product of the previous step in the pathway of making cysteine. This accumulation leads to a host of symptoms in humans, but not in yeast. In Section 22 we discussed why we expect wild type human CBS protein to complement CBS protein deficiency in yeast. 1. Briefly describe the procedure for expressing human CBS protein in cys4 - yeast. We will now consider various disease alleles of homocysteinurea in the context of the same assay.
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section24 - MIT Department of Biology 7.014 Introductory...

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