This article is part of the supplement: The 2010 International Conference on Bioinformatics and Computational Biology (BIOCOMP 2010): Genomics
Changes in predicted protein disorder tendency may contribute to disease risk
- Equal contributors
1 Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN, USA
2 School of Computer Science and Technology, Harbin Institute of Technology, Harbin, China
3 Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA
4 Center for Medical Genomics, Indiana University School of Medicine, Indianapolis, IN, USA
5 Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN, USA
BMC Genomics 2011, 12(Suppl 5):S2 doi:10.1186/1471-2164-12-S5-S2Published: 23 December 2011
Recent studies suggest that many proteins or regions of proteins lack 3D structure. Defined as intrinsically disordered proteins, these proteins/peptides are functionally important. Recent advances in next generation sequencing technologies enable genome-wide identification of novel nucleotide variations in a specific population or cohort.
Using the exonic single nucleotide variations (SNVs) identified in the 1,000 Genomes Project and distributed by the Genetic Analysis Workshop 17, we systematically analysed the genetic and predicted disorder potential features of the non-synonymous variations. The result of experiments suggests that a significant change in the tendency of a protein region to be structured or disordered caused by SNVs may lead to malfunction of such a protein and contribute to disease risk.
After validation with functional SNVs on the traits distributed by GAW17, we conclude that it is valuable to consider structure/disorder tendencies while prioritizing and predicting mechanistic effects arising from novel genetic variations.