discussion

This Bioinformatics lab was a success. From the partial amino acid sequence I was given, I was able to complete the sequence, find the corresponding gene and proteins, and then map out their structures. The amino acid sequence is coded by a human GRHPR gene. The GRHPR gene contains 9049 base pairs and is found on chromosome 9 at location 12. It also contains 9 Exons and 8 Introns. I was unable to find information on promoter regions and polyadenylation signals. The mRNA that is transcribed is 1170 base pairs long which translates in GRHPR protein. The protein is 328 amino acids long, and plays an important role in preventing buildup of glyoxylate in the liver and kidneys. The protein contains many domains, all of which are involved in metabolism. People with a mutation in the GRHPR gene or are lacking GRHPR enzyme production develop a rare condition known as primary hyperoxaluria. There are about 1,000 people afflicted with this condition, and there is no known cure.

The cause of primary hyperoxaluria was found through cell and molecular biology / bioinformatics tools. Researchers were able to examine tissue samples and figure out the GRHPR enzyme was missing from primary hyperoxaluria patients. This is yet another scientific / medical breaktrhough due to molecular biology and bioinformatics. The research done on GRHPR is relatively new. There were even new reports being published as I was putting together this project. Researchers believe that through further investigation into GRHPR through bioinformatics and other techniques, some light can be shed on primary hyperoxaluria, kidney stones, and d-2-hydroxyacid dehydrogenase.