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Creating variation

Evolutionary change by natural selection (or genetic drift) requires variation in DNA. Where does this variation come from?

Point mutation

Single bases in DNA can be altered by chemical processes, triggered by – for example – ionising radiation or chemical mutagens. Sometimes DNA-copying mechanisms may insert the wrong base.


Sometimes, chunks of DNA are added or lost during DNA copying. This can lead to loss or duplication of genes (or control regions).

Recently, it has been discovered that the human genome shows surprisingly high levels of variation caused by insertion or deletion. This so-called ‘copy number variation’ affects a significant proportion of the human genome.

Transposable elements

Some parts of the genome – transposable elements – can leap about from place to place in the genome. Potentially, transposable elements may play an important part in evolution by moving genes or changing how they are controlled.

Transposable elements come in many shapes and sizes. They have been likened to genetic ‘parasites’ or freeloaders, providing nothing to the cell but getting copied from generation to generation. Some look like viruses that have integrated into the genome and no longer make infectious virus particles. Some cut themselves out of the genome and move to another location; others make copies that spread through the genome.

Transposable elements make up nearly half the human genome, but they remain poorly understood. Are they purely selfish? Or do they provide advantages by supplying a new source of genetic variation?

Gene conversion

Because of complementary base pairing, strands of DNA tend to stick together like Velcro. Sometimes, genes or other sections of DNA in different parts of a chromosome (or on a different chromosome) become intermingled if they have the same or similar base sequences. When this mess is sorted out by DNA repair, it can result in the ‘wrong’ DNA being inserted. So, instead of two similar genes, a chromosome may end up with two copies of the same gene – a process known as gene conversion.

Gene transfer

Through a variety of processes, whole genes can sometimes be moved between genomes. Some viruses have a habit of snatching genes from their hosts – the algae-infecting virus EhV has acquired the genes encoding an entire metabolic pathway from its host – and bacteria are good at swapping genes among themselves.This is one reason why antibiotic resistance can spread so quickly.

Horizontal gene transfer, as it is known, can also affect eukaryotic cells, but this seems to be less common. Some genes seem to have moved from the mitochondrial genome to the nucleus. When the human genome was first sequenced, it was thought that some genes might have been transferred from bacteria, but this finding was challenged. However, researchers have identified transfer of bacterial genes into the genomes of cells in the body, particularly cancer cells.


Sometimes, bits of chromosome are moved around the genome, or they stay in the same place but their orientation is flipped. Translocations can disrupt genes or bring together genes and control regions.

Chromosomes from different species are often very dissimilar, but it is possible to see strings of genes that have stuck together through evolutionary history – Hox genes being one example.

Genome duplication

One of the most important evolutionary changes is the duplication of an entire genome. Initially, this leads to polyploidy – where an organism has extra copies of all its chromosomes.

Polyploidy is relatively common in plants: bananas and apples are triploid; cotton, potatoes, cabbages and peanuts are tetraploid; and strawberries, pansies and sugar cane are octaploid. It occurs in some animals (eg flatworms) but is very rare in mammals.

In the past, whole genome duplications are thought to have occurred several times in the lineages leading to modern organisms. Over time, genes are lost and shuffled around, obscuring the original event.

The additional genes created by genome evolution may have provided the raw material for extensive gene diversification, enabling newly duplicated genes to take on new functions. This could have played an important part in the evolution of the vertebrate nervous system.

Lead image:

Alper Cugun/Flickr CC BY


Questions for discussion

  • Is mutation bad for an individual and good for a species?

About this resource

This resource was first published in ‘Evolution’ in January 2007 and reviewed and updated in December 2014.

Genetics and genomics
Education levels:
16–19, Continuing professional development