Detecting SNP-induced structural changes in RNA: Application to disease studies

Abstract

Genotype-phenotype association studies continue to provide ever larger sets of Single Nucleotide Polymorphisms (SNPs) linked to diseases, or associated with responses to vaccines, medications, and environmental factors. Such associations provide an important step in studies of the genetic underpinnings of human diseases. To gain further insight, a deeper understanding of the molecular mechanisms by which a SNP affects cell function is necessary. When a SNP is localized within a gene or in the close neighborhood of a gene, then it is generally assumed that it affects the phenotype through changes at the expression level, the function, or other properties of this particular gene. However, the molecular mechanisms that lead to the change are usually not obvious. In the case of non-synonymous SNPs, where the underlying mutation occurs in the gene coding region and changes an amino-acid, it is usually expected that this amino-acid change affects protein function, expression, conformation or stability. © 2012 Springer-Verlag Berlin Heidelberg.