Finding a Model Organism to Study :: Sequence Analysis (Bioinformatics Toolbox)

Bioinformatics Toolbox

Finding a Model Organism to Study

In this example, you are interested in studying Tay-Sachs disease. Tay-Sachs is an autosomal recessive disease caused by the absence of the enzyme beta-hexosaminidase A (Hex A). This enzyme is responsible for the breakdown of gangliosides (GM2) in brain and nerve cells.

First, to research information about Tay-Sachs and the enzyme that is associated with this disease, then find the nucleotide sequence for the human gene that codes for the enzyme, and finally find a corresponding gene in another organism to use as a model for study.

Use the MATLAB Help browser to explore the Web. In the MATLAB Command Window, type
```
web('http://www.ncbi.nlm.nih.gov/')
```
The MATLAB Help browser opens with the home page for the NCBI web site.
Search the NCBI Web site for information. For example, to search for Tay-Sachs, from the Search list, select NCBI Web Site, and in the for box, enter Tay-Sachs.

The NCBI Web search returns a list of links to relevant pages.
Select a result page. For example, click the link labeled Tay-Sachs Disease
A page in the genes and diseases section of the NCBI Web site opens. This section provides a comprehensive introduction to medical genetics. In particular, this page contains an introduction and pictorial representation of the enzyme Hex A and its role in the metabolism of the lipid GM2 ganglioside.
After completing your research, you have concluded the following:
The gene HEXA codes for the alpha subunit of the dimer enzyme hexosaminidase A (Hex A), while the gene HEXB codes for the beta subunit of the enzyme. A third gene, GM2A, codes for the activator protein GM2. However, it is a mutation in the gene HEXA that causes Tay-Sachs.

Example: Sequence Alignment

Getting Sequence Information from a Public Database