- Point mutations
The most common type of copying error is the point mutation. In this form of mutation the nucleotide at a site is replaced by a different nucleotide. When people talk about mutation rates they are usually talking about rates of point mutations.
Effects of point mutations: Point mutations in junk DNA are common but have no effect. Sometimes point mutations in regulatory regions have no effect and sometimes they alter the expression of some genes.
- Additions and deletions
During copying a segment of DNA may be deleted or a new segment may be inserted. Typically this happens as a result of chromosome breakage or realignment. (See below.) Additions and deletions can also be produced by certain types of horizontal transfer.
Effects of additions and deletions: If the length of the new or deleted segment is not a multiple of three the translation will be garbled after the point at which the insertion/deletion occurred because the frame reading is now misaligned. This is known as a frameshift mutation. In some genes there are segments that may be duplicated as a block. This is known as tandem duplication.
- Chromosomal duplication
Sometimes one or more chromosomes are duplicated during reproduction; the offspring get extra copies of those chromosomes.
Effects of chromosomal duplication: Duplicating only one chromosome is generally disadvantageous; an example in human beings is Down's syndrome. Having multiple copies of all of the chromosomes is known as polyploidy. Polyploidy is rare in fungi and animals (although it does occur) and is common in plants. It has been estimated that 20-50% of all plant species arise as the result of polyploidy.
Gene duplication is very common; it is important because it provides a way to evolve new capabilities while retaining the old capabilities. All intermediate stages can be found in nature, from a single gene with alternate alleles to nearly identical duplicated genes with slightly different functional alleles to gene families of evolutionarily related genes with different functionalities.
- Chromosomal breakage and realignment
During reproduction a chromosome may break into two pieces or two chromosomes may be joined together. A section may be moved from one part of the chromosome to another or may be flipped in orientation (inverted). This is the mechanism by which deletions, duplications and transpositions my occur.
Effects of chromosomal breakage and realignment: Quite often these types of changes do not affect the viability of the organism (the genes are still there; they're just in different places) but, in sexually reproducing species, they may make it less likely for the organism to produce viable, fertile offspring.
- Retroviruses
Certain viruses have the ability to insert a copy of themselves into the genome of a host. The chemical that make this possible (reverse transcriptase) is widely used in genetic engineering.
Effects of retroviruses: Usually this is a way for the virus to get the host to do the work of reproducing the virus. Sometimes, however, the inserted gene mutates and becomes a permanent part of the host organism's genome. Depending on the position of the viral DNA in the host genome, genes may be disrupted or their expression altered. When insertions occur in the germline of multicellular organisms, they can be passed on vertically.
- Plasmids
Plasmids are little pieces of circular DNA that are passed from bacterium to bacterium. Plasmids can be transferred across species lines.
Effects of plasmid transfer: Plasmid transfer is an important way of spreading useful genes such as those which confer resistance to antibiotics. Plasmid transfer is an example of horizontal transfer.
- Bacterial DNA exchange
Bacteria can exchange DNA directly. They often do this in response to environmental stress.
Effects of bacterial DNA exchange: Exchange is often fatal to one or both of the bacteria involved. Sometimes, however, one or both of the partners acquires genes which are essential for the current environment.
- Higher level transfer
Some parasites can pick up genetic material from one organism and carry it to the next. This has been observed in fruit flies in the wild.
Effects of higher level transfer: When this happens novel alleles can spread much more rapidly through a species than they would for ordinary gene flow.
- Symbiotic transfer
When two organisms exist in a close symbiotic relationship one may "steal" genes from the other. The most notable example of this are mitochondria. In most organisms with mitochondria most of the original mitochondrial genes have moved from the mitochondria to the nuclear genome.
Effects of symbiotic transfer: A major effect is that the symbiotic relationship changes from being optional to be obligatory.
- Transposons
Transposons are genes that can move from one place in the genome to another.
Effects of transposons: Depending on the position of insertion, transposons can disrupt or alter the expression of host genes. In some species most mutations due to transposon insertion. For example, in Drosophila, 50-85% of mutations are due to transposon insertions.