Silent mutation

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Silent mutations are DNA mutations that do not result in a change to the amino acid sequence of a protein. They may occur in a non-coding region (outside of a gene or within an intron), or they may occur within an exon in a manner that does not alter the final amino acid sequence. The phrase silent mutation is often used interchangeably with the phrase synonymous mutation; however, synonymous mutations are a subcategory of the former, occurring only within exons.

Because silent mutations do not alter protein function they are often treated as though they are evolutionarily neutral. However, many organisms are known to exhibit codon usage biases, suggesting that there is selection for the use of particular codons due to translational stability. Silent mutations may also affect splicing, or transcriptional control.

In molecular cloning experiments, it can be useful to introduce silent mutations into a gene of interest in order to create or remove recognition sites for restriction enzymes. An online tool that can analyse a sequence of interest for possible mutations to create restriction sites is given in the External Links section.

Recent results suggest that silent mutations can have an effect on subsequent protein structure and activity^[1],^[2].

[edit] References

1. ^ Science/AAAS | Science Magazine: Sign In
2. ^ ScienceNOW - Sign In

• Chao HK, Hsiao KJ, Su TS (2001). "A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria". Hum Genet 108 (1): 14-9. doi:10.1007/s004390000435. PMID 11214902. 
• Montera M, Piaggio F, Marchese C, Gismondi V, Stella A, Resta N, Varesco L, Guanti G, Mareni C (2001). "A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family". J Med Genet 38 (12): 863-7. doi:10.1136/jmg.38.12.863. PMID 11768390.  Full text
• Chava Kimchi-Sarfaty, Jung Mi Oh, In-Wha Kim, Zuben E. Sauna, Anna Maria Calcagno, Suresh V. Ambudkar, Michael M. Gottesman (2007). "A "Silent" Polymorphism in the MDR1 Gene Changes Substrate Specificity". Science 315: 525-528. doi:10.1126/science.1135308.  Abstract Summary Full Text

[edit] See also

• Degeneracy of the genetic code
• Genealogical DNA test

[edit] External links

• An online tool for silent mutagenesis

v • d • e Topics in molecular evolution Natural selection Background selection • Balancing selection • Directional selection • Disruptive selection • Negative selection • Stabilizing selection • Selective sweep Models Models of DNA evolution • Models of nucleotide substitution • Allele frequency • Ka/Ks ratio • Tajima's D Molecular processes Gene conversion • Gene duplication • Silent mutation • Synonymous substitution