A mutation is any change in a DNA sequence. Point mutations substitute one nucleotide for another; they can be missense (different amino acid), nonsense (premature stop codon), or silent (same amino acid due to degeneracy). Frameshift mutations result from insertions or deletions that shift the reading frame, altering every codon downstream. Mutations can be caused by errors in DNA replication, errors in repair mechanisms, or external mutagens such as UV radiation or reactive chemicals. Errors in mitosis or meiosis can produce chromosomal changes: nondisjunction leads to aneuploidy (abnormal chromosome number), and structural changes include deletions, duplications, inversions, and translocations. Prokaryotes increase genetic variation through horizontal gene transfer via transformation, transduction, conjugation, and transposition. Mutations are the ultimate source of genetic variation for natural selection.
- Point mutation: Substitution of one nucleotide; effect depends on whether the resulting codon codes for the same, a different, or no amino acid.
- Frameshift mutation: Insertion or deletion of nucleotides that shifts the reading frame, typically producing a nonfunctional protein.
- Nondisjunction: Failure of chromosomes to separate properly during meiosis or mitosis, resulting in cells with abnormal chromosome numbers (aneuploidy).
- Horizontal gene transfer: Transfer of genetic material between prokaryotes via transformation (DNA uptake), transduction (viral transfer), conjugation (cell-to-cell contact), or transposition (DNA segment movement).
Why does a frameshift mutation typically have a more severe effect on protein function than a single missense mutation?
| Mutation type | Mechanism | Effect on protein |
|---|
| Silent | Nucleotide substitution; same amino acid | No change |
| Missense | Nucleotide substitution; different amino acid | Possible change in structure or function |
| Nonsense | Substitution creates stop codon | Truncated, usually nonfunctional protein |
| Frameshift | Insertion or deletion shifts reading frame | Altered amino acid sequence from mutation site onward |