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Tuesday, August 17, 2010

Find and Characterize the gene using Bioinformatics and its tools and databases

By using Bioinformatics we have to find the specific gene in genome where it is present in the genome.
Here we go:
Our gene of interest is Opsin:
Where are the opsin genes in the human genome? 
First go to this site http://www.ncbi.nlm.nih.gov/mapview/. 
Read the instructions. Note that you can look at a genome by clicking on the NAME of the species, not the B beside it. The species name takes you to a viewer for the genome of that organism. The B takes you to a BLAST search tool (later).

Click Homo sapiens (human).

You see a diagram of the human chromosomes, and a search box at the top. Enter "opsin" in the box next to Search for.

Click Find.
 You see the diagram again, with red marks at your "hits", the locations of genes whose entries contain "opsin" as a whole or partial word. Below the diagram is a list of the indicated genes. Among them are the rhodopsin gene (RHO), and three cone pigments, short-, medium-, and long-wavelength sensitive opsins (for blue, green, and red light detection). Four hits look like visual pigments, which probably does not surprise you. To the left of each entry is the chromosome number, allowing you to tell which red mark corresponds to each entry. Note that two opsins are on the X chromosome, one of the sex-determining chromosomes. You can pursue multiple hits on the same chromosome with the all matches link for that chromosome.

Click all matches next to X.

You see a very complicated display (don't sweat -- we're going to use only a part of this now). On the left is a diagram of the X chromosome, with red marks at the positions of the gene(s) you've followed to this page -- in our case, the two opsins, medium- and long-wave, which are located near the bottom tip of the X chromosome. To the right are various representations of the X chromosome, with listings of annotated areas. The two opsin genes are highlighted in pink. If you pass your cursor over this page without clicking, you will find that some symbols provide brief information, most about regions that are not yet characterized well enough to have a full entry.

As you can see, there is a tremendous amount of information on this page, with links to much more. If you want full information about the meanings of abbreviations and symbols on this page, as well as the kinds of information linked to the page, you can use Map Viewer Help at the top of the page. You will find abundant information about the Map Viewer, explanations of all symbols and links, and even tutorials about how to ask and answer all kinds of questions about the genome.

For now, note the information provided for the first of the two highlighted opsin genes, OPN1LW (this is called the gene symbol). You see that this is the long-wavelength-sensitive (red) opsin, and that it's a gene involved in color blindness (a sex-linked trait -- no surprise).

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