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Departmental Colloquium

In silico modeling of molecular effects caused by non-synonymous variations in human DNA  
Guest Speaker
Emil Alexov  
Thursday, March 4, 2010 4:00 pm - 5:00 pm  
202 Physics  

Dr. Phillip Stancil will host Dr. Emil Alexov of the University of Clemson Department of Physics and Astronomy this week. His talk is entitled "In silico modeling of molecular effects caused by non-synonymous variations in human DNA."

Human DNA sequence differs among individuals and the most common variations are known as single nucleotide polymorphisms, or SNPs. Studies have shown that non-synonymous coding SNPs (nsSNPs - SNPs occurring in protein coding regions which lead to amino acid substitutions) can be responsible for many human diseases. They can also cause the natural differences among individuals by affecting the structure, function, interactions as well as other properties of expressed proteins. The ability of predicting whether a given nsSNP is disease-causing or harmless would be of great importance both in early detection of genetic diseases for high-risk patients and facilitating future development of drugs to alter the harmful effects of these nsSNP mutations.

In this talk, I will present an overview of the existing approaches to model the effects of nsSNPs, emphasising on modeling the effects affecting protein-protein interactions. I will demonstrate that these effects can not be predicted without detailed computer simulations due to the natural plasticity of protein structures. Further I will focus on a particular disease, the Snyder-Robinson syndrome, which was shown to be caused by malfunction of a particular protein, the spermine sythase protein. Three missense mutations have been clinically identified, but so far no explanation of the effects on molecular level is available. I will present a detailed computational analysis of the molecular effects caused by these mutations and link the corresponding findings to the function of spermine sythase protein.