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.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Bartoszewski, R.A., Jablonsky, M., Bartoszewska, S., Stevenson, L., Dai, Q., Kappes, J., Collawn, J.F., Bebok, Z.: A synonymous single nucleotide polymorphism in DeltaF508 CFTR alters the secondary structure of the mRNA and the expression of the mutant protein. J. Biol. Chem. 285, 28741–28748 (2010)
Chamary, J.V., Hurst, L.D.: Evidence for selection on synonymous mutations affecting stability of mRNA secondary structure in mammals. Genome Biol. 6, R75 (2005)
Halvorsen, M., Martin, J.S., Broadaway, S., Laederach, A.: Disease-associated mutations that alter the RNA structural ensemble. PLoS Genet. 6, e1001074 (2010)
Kikinis, Z., Eisenstein, R.S., Bettany, A.J., Munro, H.N.: Role of RNA secondary structure of the iron-responsive element in translational regulation of ferritin synthesis. Nucleic Acids Res. 23, 4190–4195 (1995)
Meyer, I.M., Miklos, I.: Statistical evidence for conserved, local secondary structure in the coding regions of eukaryotic mRNAs and pre-mRNAs. Nucleic Acids Res. 33, 6338–6348 (2005)
Sauna, Z.E., Kimchi-Sarfaty, C.: Understanding the contribution of synonymous mutations to human disease. Nat. Rev. Genet. 12, 683–691 (2011)
Villette, S., Kyle, J.A., Brown, K.M., Pickard, K., Milne, J.S., Nicol, F., Arthur, J.R., Hesketh, J.E.: A novel single nucleotide polymorphism in the 3’ untranslated region of human glutathione peroxidase 4 influences lipoxygenase metabolism. Blood Cells Mol. Dis. 29, 174–178 (2002)
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2012 Springer-Verlag Berlin Heidelberg
About this paper
Cite this paper
Salari, R., Kimchi-Sarfaty, C., Gottesman, M.M., Przytycka, T.M. (2012). Detecting SNP-Induced Structural Changes in RNA: Application to Disease Studies. In: Chor, B. (eds) Research in Computational Molecular Biology. RECOMB 2012. Lecture Notes in Computer Science(), vol 7262. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-29627-7_25
Download citation
DOI: https://doi.org/10.1007/978-3-642-29627-7_25
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-29626-0
Online ISBN: 978-3-642-29627-7
eBook Packages: Computer ScienceComputer Science (R0)