Silent Mutation - Examples

Examples

Steffen Mueller at the Stony Brook University designed a live virus vaccine in which the pathogen was engineered to have synonymous codons take the place of normally occurring ones in the genome. As a result, the vaccine was still able to infect and reproduce, albeit more slowly. Mice were vaccinated with this vaccine and they showed a resistance against the natural polio strain.

Mental disorders can be caused by silent mutations. One silent mutation causes the dopamine receptor D2 gene to be less stable and degrade faster, under expressing the gene.

Also, deviations from average pain sensitivity (APS) are caused by both an ATG to GTG mutation (nonsynonymous), and a CAT to CAC mutation (synonymous). Ironically, these two mutations are both shared by the Low pain sensitivity (LPS) and High pain sensitivity (HPS)gene. What distinguishes LPS from HPS is that LPS has an additional CTC to CTG silent mutation, while HPS does not and shares the CTC sequence at this location with APS.

LPS APS HPS
CAC CAT CAC
CTG CTC CTC
GTG ATG GTG

A silent mutation in the multidrug resistance 1 gene, which codes for a cellular membrane pump that expels drugs from the cell, can slow down translation in a specific location to allow the peptide chain to bend into an unusual conformation. Thus, the mutant pump is less functional.

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