Tay+Sachs--Material+and+Methods

1. **GENE-NCBI:** NCBI's Gene database was used to identify the gene responsible for Tay-Sachs disease. When searching the database for “Tay-Sachs” search results were numerous, as it brought up many different genes and articles. Narrowing the search for “HEXA” returned multiple HEXA results from various species, including Humans, bulls, mice, rats, chickens, primates, and bacteria. This tool was then used to obtain background information on the gene, including possible orthologs. 2. **Basic Local Alignment Search Tool (BLASTn)**: This tool, provided by NCBI, was used to search for the HEXA gene sequence in humans, as well as similar protein sequences in other species. and protein sequences of various species that were highly similar to the gene of interest. Search parameters are summarized in the figure below.  3. **Basic Local Alignment Search Tool (BLASTp):** This tool was used as a query databank in MEGA 6 to find similar proteins to the HEXA protein product for comparison with phylogenetic analysis in MEGA 6. 3. **Molecular Evolutionary Genetics Analysis (MEGA)**: This tool was used to perform gene and protein sequence analysis and generate phylogenetic trees. Sequences were loaded from the BLAST database and aligned with CLUSTALW in the MEGA 6 program. Various phylogenetic relationships were conducted. The results are published on the “HEXA Gene and Protein—Phylogenetic Analysis” page with methods listed in tree captions. 4. **STRING**: This tool was used to explore the functional relationships between HEXA alpha subunit and associated proteins. The methods of the search involved typing in “HEXA” into the protein name search field at [] and pressing “GO!” After the evidence graphic was generated, the summary of the results posted in the table on the “HEXA Protein Interactions” page was obtained by manually selecting each protein in the graphic and researching their names and functions. All graphics from the STRING 9 search are labeled with licensure and citations on the page. 5. **KEGG**: The KEGG database was used to research metabolic pathways associated with the hexosaminidase A protein as well as to generate the image of the TSD HEXA protein. All images are for academic purposes only and cited with the image. A basic search for the HEXA gene at [] yielded the results. 6. **UCSC Gene Browser**: This tool was used to find the exact genetic location of the HEXA, HEXB, and GM2A genes, as well as to generate the image of the chromosomes seen contained within. Basic searches for "HEXA", "HEXB", and "GM2A" were done, respectively, at http://genome.ucsc.edu/cgi-bin/hgGateway to obtain the results. All images are licensed for academic/research use only and cited with image.