A Storm Is Coming—Are Synonymous Variants Commonly Impacting Gene Function?
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (31 January 2024) | Viewed by 269
Special Issue Editor
2. School of Life Sciences, University of Nevada Las Vegas, Las Vegas, NV 89154-4004, USA
Interests: bioinformatics; virology; personalized medicine; functional genomics; minimotifs; HIV; NHEJ; gene editing; high-throughput screening
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Special Issue Information
Dear Colleagues,
Synonymous variants and those variants in coding regions that do not change the encoded amino acid due to redundancy in the genetic code. Kimura championed the neutral theory of evolution in 1968, in which synonymous mutations are similar to wild-type genes, not expected to be under selective pressure, so are not fixed. This concept is the foundation for many evolutionary metrics and conclusions and is an assumption of variant effect in medical genetics healthcare. If the neutral theory were not to be a hard-fast rule, this would shake the foundation of many accepted conclusions in science and healthcare.
Well, there is accumulating evidence that does not agree with the neutral theory. The first line of evidence is focused on genomic signatures and the frequency of synonymous variants that are not silent. The second is multiple mechanisms whereby synonymous variants impact protein translation speed, folding, degradation, expression, and mRNA splicing. The third is several associations of synonymous mutations in germline and somatic human disease. Lastly, recent studies, including our group have measured the frequency of synonymous mutations that are not silent in genes with surprising results.
This Special Issue welcomes the submission of any article focused on the effects of synonymous variants. That addresses the question “Are synonymous variants commonly impacting gene function?”.
Prof. Dr. Martin R. Schiller
Guest Editor
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Keywords
- synonymous variant
- silent mutation
- neutral theory
- medical genetics
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