Frameshift mutations

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Frameshift Mutations

Frameshift mutations (/ˈfreɪmʃɪft ˈmjuːteɪʃən/) are a type of genetic mutation that involves the insertion or deletion of a nucleotide in a DNA sequence that is not divisible by three.

Etymology

The term "frameshift mutation" is derived from the concept of the reading frame in molecular biology. A "shift" in this frame can lead to different amino acids being produced, hence the term "frameshift".

Description

In a normal DNA sequence, codons are read in groups of three nucleotides. When a nucleotide is inserted or deleted, the grouping is thrown off, causing a "shift" in the reading frame. This can result in the production of an entirely different protein than what was originally intended, or it can cause the protein production to stop prematurely.

Frameshift mutations can have serious effects on an organism's health. They are known to cause various genetic disorders, including Tay-Sachs disease and Cystic fibrosis.

Related Terms

  • Point mutation: A mutation affecting only one or very few nucleotides in a gene sequence. Unlike frameshift mutations, point mutations do not cause a shift in the reading frame.
  • Nonsense mutation: A point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense codon in the transcribed mRNA, and possibly a truncated, and often nonfunctional protein product.
  • Missense mutation: A point mutation in which a single nucleotide change results in a codon that codes for a different amino acid.

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