Business

ALS311 – Homework Module 2:

Due date: November 11.

You should do this exercise in pairs. Please type all your answers and upload the file to your dropbox in sakai. Even though you should work in pairs, each student should submit their answers to sakai. Please follow the word limits for each question – note that this is the maximum word limit. You should be brief and your answer can have fewer words.

Names: Yash Ravishankar

Questions:

1. Why are evolutionarily conserved sites more likely to be involved in disease than non-conserved sites? (100 words)

Evolutionarily conserved sites are indications that a particular sequence may have been maintained by evolution despite speciation. Highly conserved proteins are often required for basic cellular function, stability or reproduction. Examples of highly conserved regions are active sites of enzymes and the binding sites of protein receptors. Conservation of protein structures is indicated by the presence of functionally equivalent, though not necessarily identical, amino acid residues and structures between analogous parts of proteins. It is widely believed that mutation in a "highly conserved" region leads to a non-viable life form, or a form that is eliminated through natural selection. In other words mutations in these positions are more likely to cause disease.

2. Why did the researchers that identified the gene for Miller syndrome had to compare the variations they found in the affected individuals to that in the dbSNP and HapMap databases? (100 words)

Structure of the human DHODH gene, showing the ten mutations associated with Miller syndrome. The average chemical severity of the mutations of this syndrome is more than twice in that of the 4 population polymorphisms present in dbSNP and HapMaP. All 10 mutations are in slow evolving sites that are highly conserved not only in primates but also among distantly related vertebrates. 50% of the mutations are found in sites completely conserved among...