Items to Include on the Metabolic Genetic Disease Web Page
The web pages are public; be sure to properly document sources for everything you have learned!
1. Diagram of the reaction catalyzed by the enzyme, all reactants and coenzymes, free energy change if available, any known inhibitors, activators, responses to hormone signals. Major metabolic role. Structural information about enzyme: number of subunits, shape and size, x ray crystallography and/or NMR structures, active site shape/size. If possible, get the 3D image of the protein from SwissProt and include it, crediting source.
2. Human gene/enzyme: domains, significant features such as nuclear location sequences, homologous genes in the human genome, role in metabolic pathways, clinical description of genetic disease, description of any treatments (gene therapy? enzyme isolation and delivery? End product supplied? toxic chemicals removed?). Location in cell, location in various tissues, timing of expression during development if known. Other items of interest re this gene and enzyme. References from the literature that are helpful re this enzyme/gene.
3. Yeast gene/enzyme: domains, significant features, homologs in yeast genome, role in metabolic pathways, description of phenotype(s) of mutants and deletions. Location of enzyme in cells; information about when it is expressed and how much it is regulated vs constitutive. Comparison of information with that available for human homolog. References from the literature that are helpful re this enzyme/gene.
4. Evaluation: Which organism has been a model for the other? Human first, or yeast first in the pathway of discovery? Or have some discoveries been led by one organism and others by the other?
5. Brief synopsis of homologs sequenced in other organisms, number per organism. (for example, 1 Arabidopsis thaliana, 4 Caenorhabditis elegans, 2 Drosophila melanogaster, 4 Mus mus) with comments on what regions seem most conserved. You may reproduce sequence comparisons from credited sources if you like.